Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.P20S

HSPB8

309 papers

RefSeq Summary

The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of thi...

Pfam Domains

HSP20aa 92–180UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 8

HGNC Alias Symbols

H11; E2IG1; HSP22; CMT2L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014365.3
p.P20S
c.58C>T
Surrounding Variants
1 paper
NM_014365.3
p.P20L
c.59C>T
2 papers
NM_014365.3
p.R22W
c.64C>T
3 papers
NM_014365.3
p.R22Q
c.65G>A
1 paper
NM_014365.3
p.D23H
c.67G>C
1 paper
NM_014365.3
p.D23A
c.68A>C
1 paper
NM_014365.3
p.D23G
c.68A>G
1 paper
NM_014365.3
p.S24F
c.71C>T
1 paper
NM_014365.3
p.S14G
c.40A>G
1 paper
NM_014365.3
p.S27ins5
c.80_81ins15
1 paper
NM_014365.3
p.H11L
c.32A>T
1 paper
NM_014365.3
p.H11N
c.31C>A
1 paper
NM_014365.3
p.R29H
c.86G>A
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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."