Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.E61E

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.E61E
c.183G>A
Surrounding Variants
1 paper
NM_006308.3
p.T62M
c.185C>T
1 paper
NM_006308.3
p.P63A
c.187C>G
1 paper
NM_006308.3
p.P63L
c.188C>T
1 paper
NM_006308.3
p.A60T
c.178G>A
2 papers
NM_006308.3
p.A59V
c.176C>T
2 papers
NM_006308.3
p.P64S
c.190C>T
1 paper
NM_006308.3
p.A59P
c.175G>C
1 paper
NM_006308.3
p.R65_E66insFs
c.195_196insT
1 paper
NM_006308.3
p.E66D
c.198A>T
1 paper
NM_006308.3
p.V56V
c.168G>A
1 paper
NM_006308.3
p.G67S
c.199G>A
1 paper
NM_006308.3
p.V56_T62ins2
c.168_185dup18
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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."