Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.C129S

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
3 papers
NM_005214.5
p.C129S
c.386G>C
Surrounding Variants
1 paper
NM_005214.5
p.C129S
c.385T>A
1 paper
NM_005214.5
p.C129R
c.385T>C
3 papers
NM_005214.5
p.I128M
c.384C>G
1 paper
NM_005214.5
p.Y127*
c.381C>G
5 papers
NM_005214.5
p.Y127C
c.380A>G
2 papers
NM_005214.5
p.V131A
c.392T>C
1 paper
NM_005214.5
p.Y127D
c.379T>G
2 papers
NM_005214.5
p.E132K
c.394G>A
1 paper
NM_005214.5
p.L133I
c.397C>A
1 paper
NM_005214.5
p.G125E
c.374G>A
1 paper
NM_005214.5
p.M134_Y139delFs
c.402_415del14
5 papers
NM_005214.5
p.G125R
c.373G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."