Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.A121fs

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
3 papers
NM_005214.5
p.A121fs
c.361_362fs
Surrounding Variants
1 paper
NM_005214.5
p.A121_V131del0
c.362_391del30
1 paper
NM_005214.5
p.M122V
c.364A>G
2 papers
NM_005214.5
p.R120delFs
c.359delG
1 paper
NM_005214.5
p.M122T
c.365T>C
1 paper
NM_005214.5
p.M122I
c.366G>A
1 paper
NM_005214.5
p.M122I
c.366G>C
1 paper
NM_005214.5
p.M122I
c.366G>T
1 paper
NM_005214.5
p.L119P
c.356T>C
4 papers
NM_005214.5
p.L119R
c.356T>G
3 papers
NM_005214.5
p.D123N
c.367G>A
1 paper
NM_005214.5
p.D123H
c.367G>C
1 paper
NM_005214.5
p.D123A
c.368A>C
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