Varaico: Literature-Extracted Genetic Variants

Gene:HS1BP3

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
1–12 of 38 variants
15 papers
NM_022460.4
p.S89G
c.265A>G
4 papers
NM_022460.4
p.V260M
c.778G>A
4 papers
NM_022460.4
p.P276P
c.828C>G
2 papers
NM_022460.4
p.G32C
c.94G>T
2 papers
NM_022460.4
p.R106W
c.316C>T
2 papers
NM_022460.4
p.S147R
c.439A>C
2 papers
NM_022460.4
p.S147R
c.441C>G
2 papers
NM_022460.4
p.S147R
c.441C>A
2 papers
NM_022460.4
p.P224L
c.671C>T
2 papers
NM_022460.4
p.A388T
c.1162G>A
1 paper
NM_022460.4
p.V8L
c.22G>C
1 paper
NM_022460.4
p.L13delFs
c.37delG
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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."