Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.K31I

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.K31I
c.92A>T
Surrounding Variants
1 paper
NM_002156.5
p.K31R
c.92A>G
1 paper
NM_002156.5
p.V30I
c.88G>A
20 papers
NM_002156.5
p.D29G
c.86A>G
1 paper
NM_002156.5
p.A34P
c.100G>C
1 paper
NM_002156.5
p.K28K
c.84A>G
1 paper
NM_002156.5
p.D35N
c.103G>A
1 paper
NM_002156.5
p.A27A
c.81C>A
1 paper
NM_002156.5
p.A27V
c.80C>T
1 paper
NM_002156.5
p.D35V
c.104A>T
1 paper
NM_002156.5
p.D35G
c.104A>G
1 paper
NM_002156.5
p.D35E
c.105T>G
1 paper
NM_002156.5
p.D35E
c.105T>A
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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."