Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1

HSPD1

519 papers

RefSeq Summary

This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and a...

Pfam Domains

Cpn60_TCP1aa 47–550UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

heat shock protein family D (Hsp60) member 1

HGNC Previous Symbol

SPG13

Papers
RefSeq ID
Protein change
DNA change
1–12 of 310 variants
20 papers
NM_002156.5
p.D29G
c.86A>G
20 papers
NM_002156.5
p.V98I
c.292G>A
14 papers
NM_002156.5
p.G563A
c.1688G>C
10 papers
NM_002156.5
p.G56E
c.167G>A
8 papers
NM_002156.5
p.R24R
c.72G>A
7 papers
NM_002156.5
p.Q461E
c.1381C>G
6 papers
NM_002156.5
p.L47V
c.139T>G
6 papers
NM_002156.5
p.R142K
c.425G>A
5 papers
NM_002156.5
p.T23T
c.69T>C
5 papers
NM_002156.5
p.K91K
c.273A>G
5 papers
NM_002156.5
p.I519V
c.1555A>G
4 papers
NM_002156.5
p.T320A
c.958A>G
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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."