Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.I152I

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.I152I
c.456T>C
Surrounding Variants
1 paper
NM_005214.5
p.D153N
c.457G>A
2 papers
NM_005214.5
p.D153G
c.458A>G
1 paper
NM_005214.5
p.I152V
c.454A>G
1 paper
NM_005214.5
p.I152F
c.454A>T
1 paper
NM_005214.5
p.D153Splc
c.457+2T>A
2 papers
NM_005214.5
p.D153Splc
c.457+2T>C
1 paper
NM_005214.5
p.D153Splc
c.457+5G>A
1 paper
NM_005214.5
p.Y150*
c.450T>A
1 paper
NM_005214.5
p.Y150*
c.450T>G
1 paper
NM_005214.5
p.Y150C
c.449A>G
1 paper
NM_005214.5
p.I149delFs
c.446delT
1 paper
NM_005214.5
p.Q148P
c.443A>C
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