Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Y60C

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
6 papers
NM_005214.5
p.Y60C
c.179A>G
Surrounding Variants
1 paper
NM_005214.5
p.Y60F
c.179A>T
3 papers
NM_005214.5
p.Y60N
c.178T>A
1 paper
NM_005214.5
p.A61G
c.182C>G
3 papers
NM_005214.5
p.E59*
c.175G>T
8 papers
NM_005214.5
p.C58S
c.173G>C
2 papers
NM_005214.5
p.C58F
c.173G>T
5 papers
NM_005214.5
p.C58S
c.172T>A
1 paper
NM_005214.5
p.C58fs
c.172_173fs
1 paper
NM_005214.5
p.C58fs
c.172_173fs
1 paper
NM_005214.5
p.P63A
c.187C>G
1 paper
NM_005214.5
p.V57V
c.171G>A
2 papers
NM_005214.5
p.G64S
c.190G>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."