Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.R70W

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
20 papers
NM_005214.5
p.R70W
c.208C>T
Surrounding Variants
5 papers
NM_005214.5
p.R70Q
c.209G>A
1 paper
NM_005214.5
p.R70L
c.209G>T
1 paper
NM_005214.5
p.R70R
c.210G>T
1 paper
NM_005214.5
p.V71insFs
c.212_213ins19
1 paper
NM_005214.5
p.V71V
c.213G>A
1 paper
NM_005214.5
p.T72P
c.214A>C
1 paper
NM_005214.5
p.T72A
c.214A>G
2 papers
NM_005214.5
p.T72insFs
c.216dupA
1 paper
NM_005214.5
p.T72R
c.215C>G
1 paper
NM_005214.5
p.T72I
c.215C>T
1 paper
NM_005214.5
p.V73fs
c.217_218fs
1 paper
NM_005214.5
p.L74I
c.220C>A
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