Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.G146*

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.G146*
c.436G>T
Surrounding Variants
18 papers
NM_005214.5
p.G146R
c.436G>A
17 papers
NM_005214.5
p.G146R
c.436G>C
1 paper
NM_005214.5
p.N145N
c.435C>T
6 papers
NM_005214.5
p.G146V
c.437G>T
3 papers
NM_005214.5
p.N145S
c.434A>G
1 paper
NM_005214.5
p.N145insFs
c.433_434ins4
1 paper
NM_005214.5
p.N145H
c.433A>C
3 papers
NM_005214.5
p.T147A
c.439A>G
1 paper
NM_005214.5
p.N145D
c.433A>G
2 papers
NM_005214.5
p.T147fs
c.439_440fs
1 paper
NM_005214.5
p.G144V
c.431G>T
3 papers
NM_005214.5
p.Q148*
c.442C>T
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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."