Varaico: Literature-Extracted Genetic Variants

Gene:ICOS
Variant:p.E132Splc

ICOS

156 papers

RefSeq Summary

The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation o...

Pfam Domains

V-set_2aa 23–134UCSCICOS V-set domain

Gene Aliases

HGNC Name

inducible T cell costimulator

HGNC Alias Symbols

AILIM; CD278

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012092.4
p.E132Splc
c.395-33T>C
Surrounding Variants
1 paper
NM_012092.4
p.E132Splc
c.395-1G>C
2 papers
NM_012092.4
p.S133T
c.397T>A
1 paper
NM_012092.4
p.Q134P
c.401A>C
1 paper
NM_012092.4
p.W142*
c.425G>A
1 paper
NM_012092.4
p.L143I
c.427T>A
1 paper
NM_012092.4
p.L143V
c.427T>G
4 papers
NM_012092.4
p.V151L
c.451G>C
1 paper
NM_012092.4
p.G157A
c.470G>C
1 paper
NM_012092.4
p.C158_I161del0
c.472_483del12
1 paper
NM_012092.4
p.K167_K168Splc
c.501+1G>A
1 paper
NM_012092.4
p.K167_K168Splc
c.501+2T>C
1 paper
NM_012092.4
p.K167_K168Splc
c.501+5G>C
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