Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.F33Y

HSPB6

91 papers

RefSeq Summary

This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012].

Pfam Domains

Crystallinaa 3–62UCSCAlpha crystallin A chain, N terminal
HSP20aa 66–158UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 6

HGNC Alias Symbols

FLJ32389; Hsp20; PPP1R91

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144617.3
p.F33Y
c.98T>A
Surrounding Variants
3 papers
NM_144617.3
p.G34R
c.100G>C
2 papers
NM_144617.3
p.Q31L
c.92A>T
1 paper
NM_144617.3
p.L37fs
c.109_110fs
1 paper
NM_144617.3
p.G36insFs
c.108dupG
2 papers
NM_144617.3
p.E41K
c.121G>A
1 paper
NM_144617.3
p.A44P
c.130G>C
1 paper
NM_144617.3
p.A44T
c.130G>A
7 papers
NM_144617.3
p.C46S
c.136T>A
7 papers
NM_144617.3
p.C46S
c.137G>C
14 papers
NM_144617.3
p.P20L
c.59C>T
1 paper
NM_144617.3
p.P20R
c.59C>G
1 paper
NM_144617.3
p.P20S
c.58C>T
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