Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Q80delFs

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.Q80delFs
c.239delA
Surrounding Variants
2 papers
NM_005214.5
p.Q80*
c.238C>T
1 paper
NM_005214.5
p.Q80fs
c.238_239fs
3 papers
NM_005214.5
p.S79N
c.236G>A
1 paper
NM_005214.5
p.S79I
c.236G>T
1 paper
NM_005214.5
p.V81L
c.241G>C
1 paper
NM_005214.5
p.V81L
c.241G>T
1 paper
NM_005214.5
p.D78E
c.234C>A
1 paper
NM_005214.5
p.D78E
c.234C>G
1 paper
NM_005214.5
p.D78N
c.232G>A
1 paper
NM_005214.5
p.D78fs
c.232_233fs
2 papers
NM_005214.5
p.D78fs
c.232_233fs
1 paper
NM_005214.5
p.D78delFs
c.232delG
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