Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.H8H

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.H8H
c.24C>T
Surrounding Variants
1 paper
NM_006308.3
p.H8L
c.23A>T
1 paper
NM_006308.3
p.L9H
c.26T>A
1 paper
NM_006308.3
p.L9_I10insFs
c.27_28insG
26 papers
NM_006308.3
p.R7S
c.21G>C
26 papers
NM_006308.3
p.R7S
c.21G>T
1 paper
NM_006308.3
p.I10insFs
c.28_29insG
3 papers
NM_006308.3
p.R7K
c.20G>A
1 paper
NM_006308.3
p.R7W
c.19A>T
2 papers
NM_006308.3
p.I10T
c.29T>C
1 paper
NM_006308.3
p.I10M
c.30A>G
3 papers
NM_006308.3
p.L6F
c.18G>C
2 papers
NM_006308.3
p.L6F
c.18G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."