Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.P38R

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.P38R
c.113C>G
Surrounding Variants
1 paper
NM_006308.3
p.P38H
c.113C>A
1 paper
NM_006308.3
p.P38T
c.112C>A
1 paper
NM_006308.3
p.P38P
c.114T>C
1 paper
NM_006308.3
p.G39R
c.115G>A
1 paper
NM_006308.3
p.G39R
c.115G>C
2 papers
NM_006308.3
p.L37P
c.110T>C
1 paper
NM_006308.3
p.P40insFs
c.118_119insGT
1 paper
NM_006308.3
p.A36G
c.107C>G
1 paper
NM_006308.3
p.T41A
c.121A>G
2 papers
NM_006308.3
p.Y35F
c.104A>T
1 paper
NM_006308.3
p.L34L
c.102A>G
1 paper
NM_006308.3
p.I42V
c.124A>G
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