Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.I143V

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
2 papers
NM_005214.5
p.I143V
c.427A>G
Surrounding Variants
1 paper
NM_005214.5
p.G142G
c.426C>T
1 paper
NM_005214.5
p.I143T
c.428T>C
1 paper
NM_005214.5
p.G142D
c.425G>A
1 paper
NM_005214.5
p.G142R
c.424G>C
1 paper
NM_005214.5
p.G144V
c.431G>T
1 paper
NM_005214.5
p.L141Q
c.422T>A
2 papers
NM_005214.5
p.L141P
c.422T>C
1 paper
NM_005214.5
p.N145insFs
c.433_434ins4
1 paper
NM_005214.5
p.N145H
c.433A>C
1 paper
NM_005214.5
p.N145D
c.433A>G
3 papers
NM_005214.5
p.N145S
c.434A>G
1 paper
NM_005214.5
p.Y140*
c.420C>G
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