Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.G34R

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
6 papers
NM_014365.3
p.G34R
c.100G>C
Surrounding Variants
2 papers
NM_014365.3
p.G34S
c.100G>A
1 paper
NM_014365.3
p.G34_S47delFs
c.102_139del38
1 paper
NM_014365.3
p.F35del1
c.103_104delTTT
5 papers
NM_014365.3
p.L31L
c.93G>A
1 paper
NM_014365.3
p.L31Q
c.92T>A
1 paper
NM_014365.3
p.R29R
c.87C>G
1 paper
NM_014365.3
p.R29H
c.86G>A
5 papers
NM_014365.3
p.P39L
c.116C>T
1 paper
NM_014365.3
p.S27ins5
c.80_81ins15
1 paper
NM_014365.3
p.D42V
c.125A>T
1 paper
NM_014365.3
p.S24F
c.71C>T
1 paper
NM_014365.3
p.D23A
c.68A>C
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