Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.I73F

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.I73F
c.217A>T
Surrounding Variants
1 paper
NM_006308.3
p.Q72Q
c.216G>A
1 paper
NM_006308.3
p.Q72_I73insFs
c.216_217insA
1 paper
NM_006308.3
p.L74M
c.220C>A
1 paper
NM_006308.3
p.Q72fs
c.214_215fs
5 papers
NM_006308.3
p.F71L
c.213T>A
1 paper
NM_006308.3
p.L74Q
c.221T>A
5 papers
NM_006308.3
p.F71L
c.213T>G
2 papers
NM_006308.3
p.L75V
c.223C>G
1 paper
NM_006308.3
p.L75L
c.223C>T
5 papers
NM_006308.3
p.F71L
c.211T>C
1 paper
NM_006308.3
p.D76V
c.227A>T
1 paper
NM_006308.3
p.S69Y
c.206C>A
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."