Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.F97Y

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.F97Y
c.290T>A
Surrounding Variants
1 paper
NM_005214.5
p.F97insFs
c.290_291insA
1 paper
NM_005214.5
p.L98_T106del9
c.292_317del27
1 paper
NM_005214.5
p.D100N
c.298G>A
3 papers
NM_005214.5
p.E94*
c.280G>T
1 paper
NM_005214.5
p.N93K
c.279T>A
1 paper
NM_005214.5
p.N93K
c.279T>G
1 paper
NM_005214.5
p.N93D
c.277A>G
1 paper
NM_005214.5
p.G92G
c.276G>T
3 papers
NM_005214.5
p.I102T
c.305T>C
2 papers
NM_005214.5
p.G92R
c.274G>A
1 paper
NM_005214.5
p.G92R
c.274G>C
4 papers
NM_005214.5
p.C103S
c.307T>A
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