Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.D76V

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.D76V
c.227A>T
Surrounding Variants
2 papers
NM_006308.3
p.D76D
c.228C>T
1 paper
NM_006308.3
p.V77E
c.230T>A
1 paper
NM_006308.3
p.V77A
c.230T>C
1 paper
NM_006308.3
p.V77G
c.230T>G
2 papers
NM_006308.3
p.L75V
c.223C>G
1 paper
NM_006308.3
p.L75L
c.223C>T
1 paper
NM_006308.3
p.L74Q
c.221T>A
1 paper
NM_006308.3
p.V78A
c.233T>C
1 paper
NM_006308.3
p.L74M
c.220C>A
1 paper
NM_006308.3
p.Q79fs
c.235_236fs
1 paper
NM_006308.3
p.I73F
c.217A>T
1 paper
NM_006308.3
p.F80del1
c.238_239delTTC
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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."