Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.K141N

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
80 papers
NM_014365.3
p.K141N
c.423G>T
Surrounding Variants
80 papers
NM_014365.3
p.K141N
c.423G>C
19 papers
NM_014365.3
p.K141T
c.422A>C
11 papers
NM_014365.3
p.K141M
c.422A>T
9 papers
NM_014365.3
p.K141Q
c.421A>C
82 papers
NM_014365.3
p.K141E
c.421A>G
1 paper
NM_014365.3
p.Q144*
c.430C>T
8 papers
NM_014365.3
p.N138T
c.413A>C
6 papers
NM_014365.3
p.K137E
c.409A>G
1 paper
NM_014365.3
p.S136A
c.406T>G
1 paper
NM_014365.3
p.G133S
c.397G>A
1 paper
NM_014365.3
p.E131G
c.392A>G
1 paper
NM_014365.3
p.K128*
c.382A>T
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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."