Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.W93*

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.W93*
c.279G>A
Surrounding Variants
1 paper
NM_006308.3
p.L94L
c.280C>T
1 paper
NM_006308.3
p.W93R
c.277T>A
2 papers
NM_006308.3
p.L94L
c.282G>A
1 paper
NM_006308.3
p.L95V
c.283C>G
1 paper
NM_006308.3
p.G92A
c.275G>C
1 paper
NM_006308.3
p.L95insFs
c.285dupG
1 paper
NM_006308.3
p.E91V
c.272A>T
1 paper
NM_006308.3
p.E91K
c.271G>A
1 paper
NM_006308.3
p.K97E
c.289A>G
1 paper
NM_006308.3
p.F90S
c.269T>C
2 papers
NM_006308.3
p.T89I
c.266C>T
1 paper
NM_006308.3
p.A98T
c.292G>A
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