Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Q111R

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.Q111R
c.332A>G
Surrounding Variants
1 paper
NM_005214.5
p.Q111L
c.332A>T
1 paper
NM_005214.5
p.N110K
c.330T>G
1 paper
NM_005214.5
p.N110I
c.329A>T
1 paper
NM_005214.5
p.N113ins1
c.337_338insGTC
1 paper
NM_005214.5
p.N113D
c.337A>G
14 papers
NM_005214.5
p.G109E
c.326G>A
1 paper
NM_005214.5
p.G109A
c.326G>C
1 paper
NM_005214.5
p.L114F
c.340C>T
2 papers
NM_005214.5
p.L114delFs
c.342delC
1 paper
NM_005214.5
p.S108insFs
c.322_323insT
2 papers
NM_005214.5
p.T115fs
c.343_344fs
2 papers
NM_005214.5
p.T115I
c.344C>T
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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."