Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3

HSPB3

795 papers

RefSeq Summary

This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010].

Pfam Domains

HSP20aa 64–150UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 3

HGNC Alias Symbol

HSPL27

Papers
RefSeq ID
Protein change
DNA change
1–12 of 285 variants
46 papers
NM_006308.3
p.K68Q
c.202A>C
26 papers
NM_006308.3
p.R7S
c.21G>C
26 papers
NM_006308.3
p.R7S
c.21G>T
10 papers
NM_006308.3
p.Y118H
c.352T>C
9 papers
NM_006308.3
p.R116P
c.347G>C
5 papers
NM_006308.3
p.E18V
c.53A>T
5 papers
NM_006308.3
p.F71L
c.211T>C
5 papers
NM_006308.3
p.F71L
c.213T>A
5 papers
NM_006308.3
p.F71L
c.213T>G
4 papers
NM_006308.3
p.M1insFs
c.2dupT
4 papers
NM_006308.3
p.R103K
c.308G>A
3 papers
NM_006308.3
p.M1I
c.3G>A
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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."