Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.P136S

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
4 papers
NM_005214.5
p.P136S
c.406C>T
Surrounding Variants
5 papers
NM_005214.5
p.P136A
c.406C>G
7 papers
NM_005214.5
p.P136L
c.407C>T
1 paper
NM_005214.5
p.Y135S
c.404A>C
1 paper
NM_005214.5
p.Y135F
c.404A>T
2 papers
NM_005214.5
p.P137Q
c.410C>A
9 papers
NM_005214.5
p.P137R
c.410C>G
18 papers
NM_005214.5
p.P137L
c.410C>T
2 papers
NM_005214.5
p.M134T
c.401T>C
3 papers
NM_005214.5
p.M134R
c.401T>G
4 papers
NM_005214.5
p.P138T
c.412C>A
1 paper
NM_005214.5
p.M134_Y139delFs
c.402_415del14
1 paper
NM_005214.5
p.L133I
c.397C>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."