Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.E142_V143delFs

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
3 papers
NM_006308.3
p.E142_V143delFs
c.424_427del4
Surrounding Variants
1 paper
NM_006308.3
p.V141E
c.422T>A
1 paper
NM_006308.3
p.V141V
c.423G>C
1 paper
NM_006308.3
p.E142K
c.424G>A
1 paper
NM_006308.3
p.E142G
c.425A>G
1 paper
NM_006308.3
p.V143insFs
c.427dupG
1 paper
NM_006308.3
p.V143_D145del3
c.427_434del9
1 paper
NM_006308.3
p.V140L
c.418G>C
1 paper
NM_006308.3
p.V143A
c.428T>C
2 papers
NM_006308.3
p.G137G
c.411A>T
1 paper
NM_006308.3
p.G137R
c.409G>A
1 paper
NM_006308.3
p.D136N
c.406G>A
1 paper
NM_006308.3
p.D136_G137insG
c.406_410ins3
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