Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4

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
1–12 of 446 variants
881 papers
NM_005214.5
p.T17A
c.49A>G
359 papers
NM_005214.5
p.T106T
c.318C>T
77 papers
NM_005214.5
p.F6Y
c.17T>A
22 papers
NM_005214.5
p.C103Y
c.308G>A
20 papers
NM_005214.5
p.R51*
c.151C>T
20 papers
NM_005214.5
p.R70W
c.208C>T
18 papers
NM_005214.5
p.P137L
c.410C>T
18 papers
NM_005214.5
p.G146R
c.436G>A
17 papers
NM_005214.5
p.G146R
c.436G>C
14 papers
NM_005214.5
p.G109E
c.326G>A
13 papers
NM_005214.5
p.R75W
c.223C>T
12 papers
NM_005214.5
p.W20*
c.60G>A
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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."