Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.R142K

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
6 papers
NM_002156.5
p.R142K
c.425G>A
Surrounding Variants
1 paper
NM_002156.5
p.R141G
c.421A>G
1 paper
NM_002156.5
p.I140T
c.419T>C
1 paper
NM_002156.5
p.G143Splc
c.427+10T>C
1 paper
NM_002156.5
p.N136K
c.408T>A
1 paper
NM_002156.5
p.G134C
c.400G>T
1 paper
NM_002156.5
p.K133N
c.399A>T
1 paper
NM_002156.5
p.K133I
c.398A>T
1 paper
NM_002156.5
p.K133E
c.397A>G
2 papers
NM_002156.5
p.E129K
c.385G>A
1 paper
NM_002156.5
p.F128Y
c.383T>A
1 paper
NM_002156.5
p.K125R
c.374A>G
1 paper
NM_002156.5
p.R121S
c.361C>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."