Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.A44G

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.A44G
c.131C>G
Surrounding Variants
1 paper
NM_005214.5
p.V45L
c.133G>T
1 paper
NM_005214.5
p.V46_L47del2
c.136_140del6
1 paper
NM_005214.5
p.P43S
c.127C>T
2 papers
NM_005214.5
p.V46fs
c.136_137fs
2 papers
NM_005214.5
p.V46insFs
c.137dupT
1 paper
NM_005214.5
p.Q42P
c.125A>C
1 paper
NM_005214.5
p.Q42Fs
c.125_126delinsCFs
2 papers
NM_005214.5
p.V46A
c.137T>C
1 paper
NM_005214.5
p.Q42fs
c.124_125fs
1 paper
NM_005214.5
p.A41D
c.122C>A
5 papers
NM_005214.5
p.L47P
c.140T>C
1 paper
NM_005214.5
p.V40V
c.120G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."