Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.A50P

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.A50P
c.148G>C
Surrounding Variants
1 paper
NM_006308.3
p.A50T
c.148G>A
1 paper
NM_006308.3
p.A50E
c.149C>A
1 paper
NM_006308.3
p.A50V
c.149C>T
1 paper
NM_006308.3
p.A50delFs
c.150delA
1 paper
NM_006308.3
p.R49K
c.146G>A
2 papers
NM_006308.3
p.A51T
c.151G>A
1 paper
NM_006308.3
p.T48S
c.142A>T
1 paper
NM_006308.3
p.T48delFs
c.144delC
1 paper
NM_006308.3
p.Q52K
c.154C>A
1 paper
NM_006308.3
p.Q52R
c.155A>G
1 paper
NM_006308.3
p.T48_R49del1
c.143_145delCCA
1 paper
NM_006308.3
p.K47R
c.140A>G
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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."