Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.D136N

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
Selected Variant
1 paper
NM_006308.3
p.D136N
c.406G>A
Surrounding Variants
1 paper
NM_006308.3
p.D136_G137insG
c.406_410ins3
1 paper
NM_006308.3
p.H135R
c.404A>G
1 paper
NM_006308.3
p.G137R
c.409G>A
1 paper
NM_006308.3
p.C134*
c.402T>A
2 papers
NM_006308.3
p.C134C
c.402T>C
2 papers
NM_006308.3
p.G137G
c.411A>T
1 paper
NM_006308.3
p.L133P
c.398T>C
1 paper
NM_006308.3
p.L133F
c.397C>T
1 paper
NM_006308.3
p.V132V
c.396C>T
1 paper
NM_006308.3
p.V140L
c.418G>C
1 paper
NM_006308.3
p.V132fs
c.394_395fs
1 paper
NM_006308.3
p.V141E
c.422T>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."