Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Q117Q

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.Q117Q
c.351A>G
Surrounding Variants
2 papers
NM_005214.5
p.G118R
c.352G>A
2 papers
NM_005214.5
p.G118R
c.352G>C
1 paper
NM_005214.5
p.G118A
c.353G>C
1 paper
NM_005214.5
p.I116T
c.347T>C
1 paper
NM_005214.5
p.L119P
c.356T>C
4 papers
NM_005214.5
p.L119R
c.356T>G
1 paper
NM_005214.5
p.I116delFs
c.346delA
2 papers
NM_005214.5
p.R120delFs
c.359delG
2 papers
NM_005214.5
p.T115I
c.344C>T
2 papers
NM_005214.5
p.T115fs
c.343_344fs
1 paper
NM_005214.5
p.A121_V131del0
c.362_391del30
3 papers
NM_005214.5
p.A121fs
c.361_362fs
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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."