Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.R9H

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
Selected Variant
1 paper
NM_002156.5
p.R9H
c.26G>A
Surrounding Variants
2 papers
NM_002156.5
p.R9G
c.25C>G
1 paper
NM_002156.5
p.R9R
c.27C>G
2 papers
NM_002156.5
p.Q10K
c.28C>A
1 paper
NM_002156.5
p.Q10R
c.29A>G
1 paper
NM_002156.5
p.T6T
c.18A>T
1 paper
NM_002156.5
p.T6T
c.18A>G
1 paper
NM_002156.5
p.R12K
c.35G>A
1 paper
NM_002156.5
p.P5P
c.15C>T
1 paper
NM_002156.5
p.P5R
c.14C>G
1 paper
NM_002156.5
p.P13Q
c.38C>A
1 paper
NM_002156.5
p.P5T
c.13C>A
1 paper
NM_002156.5
p.L4F
c.12A>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."