Mutation Overview - CLEC9A - p.G46R(Substitution - Missense)

Cosmic » Mutation » Overview » CLEC9A » p.G46R / c.136G>C

Overview

This tab shows an overview of the mutation data [more details]
  • Description:
  • Mutation id:
  • AA Mutation:
  • CDS Mutation:
  • NCBI 36:
  • GRCH 37:
  • Cancer Genome Browser:
  • CDD:
  • Homologene:
  • Ever confirmed somatic:

Tissue Distribution

This tab displays the distribution of mutated samples and tissue types. [more details]

Samples

This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene Name Transcript Primary Tissue Histology Pubmed Id Zygosity Somatic Status

Protein features

This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
Q6UXN8 Phobius transmembrane:32-56 32 56 Overlap 100.00
CLEC9A MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 Q6UXN8 MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 CLEC9A VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 Q6UXN8 VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 CLEC9A RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 Q6UXN8 RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 CLEC9A GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 Q6UXN8 GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 CLEC9A V Q6UXN8 V

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Wildtype Residue : G Mutant Position : 46 Mutant label : p.G46R Feature Name :transmembrane:32-56( 32- 56 )
Q6UXN8 PTHR22800:SF6 PTHR22800:SF6 1 241 Overlap 100.00
CLEC9A MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 Q6UXN8 MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 CLEC9A VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 Q6UXN8 VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 CLEC9A RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 Q6UXN8 RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 CLEC9A GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 Q6UXN8 GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 CLEC9A V Q6UXN8 V

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Wildtype Residue : G Mutant Position : 46 Mutant label : p.G46R Feature Name :PTHR22800:SF6( 1- 241 )
Q6UXN8 PTHR22800 PTHR22800 1 241 Overlap 100.00
CLEC9A MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 Q6UXN8 MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 CLEC9A VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 Q6UXN8 VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 CLEC9A RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 Q6UXN8 RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 CLEC9A GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 Q6UXN8 GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 CLEC9A V Q6UXN8 V

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Wildtype Residue : G Mutant Position : 46 Mutant label : p.G46R Feature Name :PTHR22800( 1- 241 )
Q6UXN8 UniProt:curator C-type lectin domain family 9 member A 1 241 Overlap 100.00
CLEC9A MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 Q6UXN8 MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 CLEC9A VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 Q6UXN8 VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 CLEC9A RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 Q6UXN8 RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 CLEC9A GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 Q6UXN8 GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 CLEC9A V Q6UXN8 V

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Wildtype Residue : G Mutant Position : 46 Mutant label : p.G46R Feature Name :C-type lectin domain family 9 member A( 1- 241 )
Q6UXN8 UniProt:curator Helical; Signal-anchor for type II membrane protein; 36 56 Overlap 100.00
CLEC9A MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 Q6UXN8 MHEEEIYTSLQWDSPAPDTYQKCLSSNKCSGACCLVMVISCVFCMGLLTASIFLGVKLLQ 60 CLEC9A VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 Q6UXN8 VSTIAMQQQEKLIQQERALLNFTEWKRSCALQMKYCQAFMQNSLSSAHNSSPCPNNWIQN 120 CLEC9A RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 Q6UXN8 RESCYYVSEIWSIWHTSQENCLKEGSTLLQIESKEEMDFITGSLRKIKGSYDYWVGLSQD 180 CLEC9A GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 Q6UXN8 GHSGRWLWQDGSSPSPGLLPAERSQSANQVCGYVKSNSLLSSNCSTWKYFICEKYALRSS 240 CLEC9A V Q6UXN8 V

More details

Wildtype Residue : G Mutant Position : 46 Mutant label : p.G46R Feature Name :Helical; Signal-anchor for type II membrane protein;( 36- 56 )

References

This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed