Varaico: Literature-Extracted Genetic Variants

Gene:HSPE1

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
1–12 of 33 variants
4 papers
NM_002157.3
p.L73F
c.217C>T
2 papers
NM_002157.3
p.K36E
c.106A>G
1 paper
NM_002157.3
p.M1L
c.1A>C
1 paper
NM_002157.3
p.M1V
c.1A>G
1 paper
NM_002157.3
p.M1L
c.1A>T
1 paper
NM_002157.3
p.M1T
c.2T>C
1 paper
NM_002157.3
p.A5V
c.14C>T
1 paper
NM_002157.3
p.R7S
c.21A>C
1 paper
NM_002157.3
p.K8K
c.24G>A
1 paper
NM_002157.3
p.L12I
c.34C>A
1 paper
NM_002157.3
p.R15L
c.44G>T
1 paper
NM_002157.3
p.S21insFs
c.61_62ins4
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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."