Varaico: Literature-Extracted Genetic Variants

Gene:HSPE1
Variant:p.L73F

HSPE1

70 papers

RefSeq Summary

This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functi...

Pfam Domains

Cpn10aa 8–100UCSCChaperonin 10 Kd subunit

Gene Aliases

HGNC Name

heat shock protein family E (Hsp10) member 1

HGNC Alias Symbols

CPN10; GroES; HSP10; EPF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002157.3
p.L73F
c.217C>T
Surrounding Variants
1 paper
NM_002157.3
p.P74S
c.220C>T
1 paper
NM_002157.3
p.P74P
c.222A>G
1 paper
NM_002157.3
p.E75G
c.224A>G
1 paper
NM_002157.3
p.V82insFs
c.244_245insT
1 paper
NM_002157.3
p.Q61_P62ins4
c.181_185ins12
1 paper
NM_002157.3
p.D87N
c.259G>A
1 paper
NM_002157.3
p.G94V
c.281G>T
1 paper
NM_002157.3
p.*103*
c.308G>A
1 paper
NM_002157.3
p.K56_G57Splc
c.168+650A>G
1 paper
NM_002157.3
p.K56R
c.167A>G
1 paper
NM_002157.3
p.K56Q
c.166A>C
1 paper
NM_002157.3
p.S53P
c.157T>C
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