Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.T106P

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.T106P
c.316A>C
Surrounding Variants
1 paper
NM_005214.5
p.S107delFs
c.319_320delTC
1 paper
NM_005214.5
p.T106T
c.318C>A
1 paper
NM_005214.5
p.T106T
c.318C>G
359 papers
NM_005214.5
p.T106T
c.318C>T
1 paper
NM_005214.5
p.T104T
c.312G>T
1 paper
NM_005214.5
p.S108insFs
c.322_323insT
1 paper
NM_005214.5
p.C103C
c.309C>T
22 papers
NM_005214.5
p.C103Y
c.308G>A
3 papers
NM_005214.5
p.C103S
c.308G>C
4 papers
NM_005214.5
p.C103S
c.307T>A
14 papers
NM_005214.5
p.G109E
c.326G>A
1 paper
NM_005214.5
p.G109A
c.326G>C
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