Varaico: Literature-Extracted Genetic Variants

Gene:HS1BP3
Variant:p.L13delFs

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.L13delFs
c.37delG
Surrounding Variants
2 papers
NM_022460.4
p.G32C
c.94G>T
1 paper
NM_022460.4
p.S36insFs
c.107_108insT
1 paper
NM_022460.4
p.G37E
c.110G>A
1 paper
NM_022460.4
p.H38R
c.113A>G
1 paper
NM_022460.4
p.D61N
c.181G>A
1 paper
NM_022460.4
p.A87A
c.261A>G
15 papers
NM_022460.4
p.S89G
c.265A>G
1 paper
NM_022460.4
p.L93L
c.277C>T
2 papers
NM_022460.4
p.R106W
c.316C>T
1 paper
NM_022460.4
p.V111M
c.331G>A
1 paper
NM_022460.4
p.G136Splc
c.406+57G>A
1 paper
NM_022460.4
p.V8L
c.22G>C
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