Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.R8Q

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
3 papers
NM_005214.5
p.R8Q
c.23G>A
Surrounding Variants
4 papers
NM_005214.5
p.R8W
c.22C>T
2 papers
NM_005214.5
p.R8R
c.24G>A
1 paper
NM_005214.5
p.H9insFs
c.25_26ins14
1 paper
NM_005214.5
p.H9D
c.25C>G
1 paper
NM_005214.5
p.Q7*
c.19C>T
1 paper
NM_005214.5
p.K10E
c.28A>G
77 papers
NM_005214.5
p.F6Y
c.17T>A
11 papers
NM_005214.5
p.F6S
c.17T>C
1 paper
NM_005214.5
p.K10K
c.30G>A
1 paper
NM_005214.5
p.F6L
c.16T>C
1 paper
NM_005214.5
p.F6delFs
c.18delT
1 paper
NM_005214.5
p.A11T
c.31G>A
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."