Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.K68E

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.K68E
c.202A>G
Surrounding Variants
46 papers
NM_006308.3
p.K68Q
c.202A>C
1 paper
NM_006308.3
p.K68*
c.202A>T
1 paper
NM_006308.3
p.G67S
c.199G>A
1 paper
NM_006308.3
p.E66D
c.198A>T
1 paper
NM_006308.3
p.S69Y
c.206C>A
1 paper
NM_006308.3
p.R65_E66insFs
c.195_196insT
5 papers
NM_006308.3
p.F71L
c.211T>C
5 papers
NM_006308.3
p.F71L
c.213T>A
5 papers
NM_006308.3
p.F71L
c.213T>G
1 paper
NM_006308.3
p.Q72fs
c.214_215fs
2 papers
NM_006308.3
p.P64S
c.190C>T
1 paper
NM_006308.3
p.P63L
c.188C>T
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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."