Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.L28F

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.L28F
c.82C>T
Surrounding Variants
2 papers
NM_005214.5
p.L28fs
c.82_83fs
6 papers
NM_005214.5
p.L28fs
c.82_83fs
3 papers
NM_005214.5
p.L28P
c.83T>C
1 paper
NM_005214.5
p.L29L
c.87C>T
1 paper
NM_005214.5
p.F26S
c.77T>C
3 papers
NM_005214.5
p.L25L
c.75G>C
8 papers
NM_005214.5
p.F26insFs
c.76_77insT
3 papers
NM_005214.5
p.F30_C35del0
c.90_104del15
3 papers
NM_005214.5
p.L25delFs
c.75delG
1 paper
NM_005214.5
p.I31fs
c.91_92fs
1 paper
NM_005214.5
p.L25_F26ins14
c.73_77ins42
1 paper
NM_005214.5
p.L25V
c.73C>G
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