Varaico: Literature-Extracted Genetic Variants

Gene:HSPB2
Variant:p.C118R

HSPB2

41 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 protein is expres...

Pfam Domains

Crystallinaa 10–54UCSCAlpha crystallin A chain, N terminal
HSP20aa 66–163UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 2

HGNC Alias Symbols

Hs.78846; MKBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001541.4
p.C118R
c.352T>C
Surrounding Variants
2 papers
NM_001541.4
p.R119H
c.356G>A
1 paper
NM_001541.4
p.T120A
c.358A>G
1 paper
NM_001541.4
p.V113M
c.337G>A
6 papers
NM_001541.4
p.G111S
c.331G>A
1 paper
NM_001541.4
p.D108A
c.323A>C
1 paper
NM_001541.4
p.R131Q
c.392G>A
1 paper
NM_001541.4
p.A101T
c.301G>A
1 paper
NM_001541.4
p.A135G
c.404C>G
1 paper
NM_001541.4
p.A135V
c.404C>T
1 paper
NM_001541.4
p.L96M
c.286C>A
1 paper
NM_001541.4
p.I141V
c.421A>G
1 paper
NM_001541.4
p.R151*
c.451C>T
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