Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8

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
1–12 of 135 variants
82 papers
NM_014365.3
p.K141E
c.421A>G
80 papers
NM_014365.3
p.K141N
c.423G>C
80 papers
NM_014365.3
p.K141N
c.423G>T
19 papers
NM_014365.3
p.K141T
c.422A>C
12 papers
NM_014365.3
p.P90L
c.269C>T
12 papers
NM_014365.3
p.Q170fs
c.508_509fs
11 papers
NM_014365.3
p.K141M
c.422A>T
9 papers
NM_014365.3
p.K141Q
c.421A>C
9 papers
NM_014365.3
p.Q170delFs
c.508_509delCA
9 papers
NM_014365.3
p.P173fs
c.517_518fs
8 papers
NM_014365.3
p.N138T
c.413A>C
7 papers
NM_014365.3
p.G93A
c.278G>C
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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."