Varaico: Literature-Extracted Genetic Variants

Gene:HS1BP3
Variant:p.A274insFs

HS1BP3

54 papers

RefSeq Summary

The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008].

Pfam Domains

PXaa 57–138UCSCPX domain

Gene Aliases

HGNC Name

HCLS1 binding protein 3

HGNC Alias Symbols

HS1-BP3; FLJ14249

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022460.4
p.A274insFs
c.820dupG
Surrounding Variants
1 paper
NM_022460.4
p.A274fs
c.820_821fs
4 papers
NM_022460.4
p.P276P
c.828C>G
1 paper
NM_022460.4
p.P284P
c.852A>G
4 papers
NM_022460.4
p.V260M
c.778G>A
1 paper
NM_022460.4
p.S254P
c.760T>C
1 paper
NM_022460.4
p.S249T
c.745T>A
1 paper
NM_022460.4
p.P244L
c.731C>T
1 paper
NM_022460.4
p.P226L
c.677C>T
2 papers
NM_022460.4
p.P224L
c.671C>T
1 paper
NM_022460.4
p.P326H
c.977C>A
1 paper
NM_022460.4
p.V356G
c.1067T>G
1 paper
NM_022460.4
p.V356V
c.1068G>A
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