Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.V40M

CTLA4

1,582 papers

RefSeq Summary

This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmi...

Pfam Domains

V-setaa 41–152UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

cytotoxic T-lymphocyte associated protein 4

HGNC Previous Symbols

CELIAC3; IDDM12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_005214.5
p.V40M
c.118G>A
Surrounding Variants
4 papers
NM_005214.5
p.V40A
c.119T>C
1 paper
NM_005214.5
p.V40V
c.120G>C
1 paper
NM_005214.5
p.A41D
c.122C>A
1 paper
NM_005214.5
p.M38R
c.113T>G
1 paper
NM_005214.5
p.Q42fs
c.124_125fs
1 paper
NM_005214.5
p.Q42P
c.125A>C
1 paper
NM_005214.5
p.Q42Fs
c.125_126delinsCFs
1 paper
NM_005214.5
p.P43S
c.127C>T
1 paper
NM_005214.5
p.A37Splc
c.110-2A>G
1 paper
NM_005214.5
p.A37Splc
c.110-3T>C
1 paper
NM_005214.5
p.A44G
c.131C>G
1 paper
NM_005214.5
p.V45L
c.133G>T
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