Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.P20L

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
14 papers
NM_144617.3
p.P20L
c.59C>T
Surrounding Variants
1 paper
NM_144617.3
p.P20R
c.59C>G
1 paper
NM_144617.3
p.P20S
c.58C>T
1 paper
NM_144617.3
p.S16_P18del3
c.46_53del9
1 paper
NM_144617.3
p.S16A
c.46T>G
4 papers
NM_144617.3
p.S10F
c.29C>T
2 papers
NM_144617.3
p.Q31L
c.92A>T
1 paper
NM_144617.3
p.F33Y
c.98T>A
1 paper
NM_144617.3
p.P6del1
c.16_18delAGG
3 papers
NM_144617.3
p.G34R
c.100G>C
1 paper
NM_144617.3
p.V5G
c.14T>G
1 paper
NM_144617.3
p.L37fs
c.109_110fs
1 paper
NM_144617.3
p.G36insFs
c.108dupG
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