Varaico: Literature-Extracted Genetic Variants

Gene:HSPE1
Variant:p.S53P

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
1 paper
NM_002157.3
p.S53P
c.157T>C
Surrounding Variants
1 paper
NM_002157.3
p.K56Q
c.166A>C
1 paper
NM_002157.3
p.G50*
c.148G>T
1 paper
NM_002157.3
p.K56R
c.167A>G
1 paper
NM_002157.3
p.V46I
c.136G>A
1 paper
NM_002157.3
p.Q43Q
c.129A>G
1 paper
NM_002157.3
p.K40N
c.120A>T
2 papers
NM_002157.3
p.K36E
c.106A>G
1 paper
NM_002157.3
p.P34S
c.100C>T
1 paper
NM_002157.3
p.K28K
c.84A>G
1 paper
NM_002157.3
p.V26I
c.76G>A
1 paper
NM_002157.3
p.V26L
c.76G>C
1 paper
NM_002157.3
p.V26L
c.76G>T
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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."