Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.I53I

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
4 papers
NM_005214.5
p.I53I
c.159C>T
Surrounding Variants
4 papers
NM_005214.5
p.I53M
c.159C>G
1 paper
NM_005214.5
p.A54delFs
c.160delG
9 papers
NM_005214.5
p.A54T
c.160G>A
2 papers
NM_005214.5
p.S55_G64insFs
c.165_190dup26
1 paper
NM_005214.5
p.A54fs
c.160_161fs
1 paper
NM_005214.5
p.I53S
c.158T>G
1 paper
NM_005214.5
p.A54V
c.161C>T
2 papers
NM_005214.5
p.G52G
c.156C>T
1 paper
NM_005214.5
p.S55insFs
c.163_164insCC
1 paper
NM_005214.5
p.S55R
c.163A>C
1 paper
NM_005214.5
p.S55G
c.163A>G
1 paper
NM_005214.5
p.S55fs
c.163_164fs
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