Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.L13Q

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.L13Q
c.38T>A
Surrounding Variants
1 paper
NM_005214.5
p.L13P
c.38T>C
1 paper
NM_005214.5
p.L13_L15Fs
c.38_43delinsCTGGCACAFs
1 paper
NM_005214.5
p.L13fs
c.37_38fs
1 paper
NM_005214.5
p.N14fs
c.40_41fs
2 papers
NM_005214.5
p.N14fs
c.40_41fs
1 paper
NM_005214.5
p.Q12R
c.35A>G
5 papers
NM_005214.5
p.Q12*
c.34C>T
1 paper
NM_005214.5
p.A11A
c.33T>C
1 paper
NM_005214.5
p.A11T
c.31G>A
1 paper
NM_005214.5
p.A16delFs
c.46_47delGC
1 paper
NM_005214.5
p.K10K
c.30G>A
1 paper
NM_005214.5
p.A16D
c.47C>A
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