Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.E18D

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.E18D
c.54A>C
Surrounding Variants
1 paper
NM_006308.3
p.E18D
c.54A>T
5 papers
NM_006308.3
p.E18V
c.53A>T
2 papers
NM_006308.3
p.E19K
c.55G>A
1 paper
NM_006308.3
p.Q17H
c.51G>T
1 paper
NM_006308.3
p.E19D
c.57G>T
1 paper
NM_006308.3
p.Q17L
c.50A>T
1 paper
NM_006308.3
p.F20I
c.58T>A
1 paper
NM_006308.3
p.F20Y
c.59T>A
1 paper
NM_006308.3
p.F20S
c.59T>C
1 paper
NM_006308.3
p.F20C
c.59T>G
3 papers
NM_006308.3
p.F20L
c.60T>A
1 paper
NM_006308.3
p.F20F
c.60T>C
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