Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.F109L

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.F109L
c.325T>C
Surrounding Variants
1 paper
NM_006308.3
p.F109L
c.327T>A
2 papers
NM_006308.3
p.H107D
c.319C>G
1 paper
NM_006308.3
p.H107Y
c.319C>T
2 papers
NM_006308.3
p.S111A
c.331T>G
1 paper
NM_006308.3
p.R112delFs
c.335_336delGA
1 paper
NM_006308.3
p.R112*
c.334A>T
1 paper
NM_006308.3
p.E106K
c.316G>A
1 paper
NM_006308.3
p.E106Q
c.316G>C
1 paper
NM_006308.3
p.R112K
c.335G>A
1 paper
NM_006308.3
p.D105E
c.315T>A
1 paper
NM_006308.3
p.D105N
c.313G>A
1 paper
NM_006308.3
p.S113N
c.338G>A
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