Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.M1L

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.M1L
c.1A>T
Surrounding Variants
1 paper
NM_014365.3
p.M1L
c.1A>C
1 paper
NM_014365.3
p.M1T
c.2T>C
1 paper
NM_014365.3
p.M1I
c.3G>A
2 papers
NM_014365.3
p.A2P
c.4G>C
2 papers
NM_014365.3
p.Q5R
c.14A>G
1 paper
NM_014365.3
p.M6L
c.16A>T
1 paper
NM_014365.3
p.P7S
c.19C>T
1 paper
NM_014365.3
p.P7R
c.20C>G
1 paper
NM_014365.3
p.F8L
c.24C>A
1 paper
NM_014365.3
p.F8F
c.24C>T
1 paper
NM_014365.3
p.S9ins5
c.25_26ins15
1 paper
NM_014365.3
p.S9Y
c.26C>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."