Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
2 papers
NM_005214.5
p.M1I
c.3G>C
1 paper
NM_005214.5
p.M1_A2insFs
c.3_4insA
1 paper
NM_005214.5
p.A2T
c.4G>A
1 paper
NM_005214.5
p.A2P
c.4G>C
6 papers
NM_005214.5
p.M1T
c.2T>C
1 paper
NM_005214.5
p.M1insFs
c.2dupT
1 paper
NM_005214.5
p.M1L
c.1A>C
4 papers
NM_005214.5
p.M1V
c.1A>G
2 papers
NM_005214.5
p.M1L
c.1A>T
2 papers
NM_005214.5
p.A2D
c.5C>A
1 paper
NM_005214.5
p.A2V
c.5C>T
1 paper
NM_005214.5
p.C3R
c.7T>C
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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."