Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Y89C

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
1 paper
NM_005214.5
p.Y89C
c.266A>G
Surrounding Variants
2 papers
NM_005214.5
p.Y89*
c.267C>A
2 papers
NM_005214.5
p.Y89*
c.267C>G
3 papers
NM_005214.5
p.Y89H
c.265T>C
2 papers
NM_005214.5
p.M90V
c.268A>G
1 paper
NM_005214.5
p.T88delFs
c.264delC
2 papers
NM_005214.5
p.M90I
c.270G>A
2 papers
NM_005214.5
p.M90I
c.270G>C
2 papers
NM_005214.5
p.M90I
c.270G>T
1 paper
NM_005214.5
p.M91T
c.272T>C
2 papers
NM_005214.5
p.G92R
c.274G>A
1 paper
NM_005214.5
p.G92R
c.274G>C
8 papers
NM_005214.5
p.A86V
c.257C>T
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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."