Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.D42V

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.D42V
c.125A>T
Surrounding Variants
5 papers
NM_014365.3
p.P39L
c.116C>T
1 paper
NM_014365.3
p.W48*
c.143G>A
1 paper
NM_014365.3
p.P49S
c.145C>T
1 paper
NM_014365.3
p.F35del1
c.103_104delTTT
1 paper
NM_014365.3
p.G34_S47delFs
c.102_139del38
2 papers
NM_014365.3
p.G34S
c.100G>A
6 papers
NM_014365.3
p.G34R
c.100G>C
2 papers
NM_014365.3
p.W51insFs
c.151_152insC
3 papers
NM_014365.3
p.W51C
c.153G>C
3 papers
NM_014365.3
p.W51C
c.153G>T
5 papers
NM_014365.3
p.L31L
c.93G>A
1 paper
NM_014365.3
p.L31Q
c.92T>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."