Varaico: Literature-Extracted Genetic Variants

Gene:HSPB2
Variant:p.L34fs

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.L34fs
c.100_101fs
Surrounding Variants
1 paper
NM_001541.4
p.E36K
c.106G>A
1 paper
NM_001541.4
p.I38T
c.113T>C
1 paper
NM_001541.4
p.P51insFs
c.151_152insC
1 paper
NM_001541.4
p.R52L
c.155G>T
1 paper
NM_001541.4
p.A53T
c.157G>A
1 paper
NM_001541.4
p.L69F
c.205C>T
1 paper
NM_001541.4
p.L96M
c.286C>A
1 paper
NM_001541.4
p.A101T
c.301G>A
1 paper
NM_001541.4
p.D108A
c.323A>C
6 papers
NM_001541.4
p.G111S
c.331G>A
1 paper
NM_001541.4
p.V113M
c.337G>A
1 paper
NM_001541.4
p.C118R
c.352T>C
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