Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.W20*

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
12 papers
NM_005214.5
p.W20*
c.60G>A
Surrounding Variants
1 paper
NM_005214.5
p.P21fs
c.61_62fs
1 paper
NM_005214.5
p.P21S
c.61C>T
1 paper
NM_005214.5
p.W20*
c.59G>A
2 papers
NM_005214.5
p.T19insFs
c.56_57ins4
3 papers
NM_005214.5
p.T19I
c.56C>T
1 paper
NM_005214.5
p.T19P
c.55A>C
1 paper
NM_005214.5
p.R18S
c.54G>C
3 papers
NM_005214.5
p.R18S
c.54G>T
1 paper
NM_005214.5
p.L24fs
c.70_71fs
1 paper
NM_005214.5
p.T17P
c.49A>C
881 papers
NM_005214.5
p.T17A
c.49A>G
1 paper
NM_005214.5
p.A16D
c.47C>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."