Varaico: Literature-Extracted Genetic Variants

Gene:HS1BP3
Variant:p.S147R

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
2 papers
NM_022460.4
p.S147R
c.441C>G
Surrounding Variants
2 papers
NM_022460.4
p.S147R
c.441C>A
2 papers
NM_022460.4
p.S147R
c.439A>C
1 paper
NM_022460.4
p.S158N
c.473G>A
1 paper
NM_022460.4
p.F167F
c.501C>T
1 paper
NM_022460.4
p.E172K
c.514G>A
1 paper
NM_022460.4
p.A177V
c.530C>T
1 paper
NM_022460.4
p.G180V
c.539G>T
1 paper
NM_022460.4
p.P181L
c.542C>T
1 paper
NM_022460.4
p.E198Q
c.592G>C
1 paper
NM_022460.4
p.G136Splc
c.406+57G>A
1 paper
NM_022460.4
p.V111M
c.331G>A
2 papers
NM_022460.4
p.R106W
c.316C>T
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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."