Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.S49G

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.S49G
c.145A>G
Surrounding Variants
5 papers
NM_005214.5
p.L47P
c.140T>C
1 paper
NM_005214.5
p.R51G
c.151C>G
20 papers
NM_005214.5
p.R51*
c.151C>T
1 paper
NM_005214.5
p.R51L
c.152G>T
2 papers
NM_005214.5
p.V46A
c.137T>C
2 papers
NM_005214.5
p.V46fs
c.136_137fs
2 papers
NM_005214.5
p.V46insFs
c.137dupT
2 papers
NM_005214.5
p.G52D
c.155G>A
3 papers
NM_005214.5
p.G52V
c.155G>T
2 papers
NM_005214.5
p.G52G
c.156C>T
1 paper
NM_005214.5
p.V45L
c.133G>T
1 paper
NM_005214.5
p.V46_L47del2
c.136_140del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."