Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.R290W

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.R290W
c.868A>T
Surrounding Variants
1 paper
NM_002156.5
p.R290K
c.869G>A
1 paper
NM_002156.5
p.L291V
c.871C>G
1 paper
NM_002156.5
p.K292*
c.874A>T
1 paper
NM_002156.5
p.G294V
c.881G>T
2 papers
NM_002156.5
p.F305L
c.913T>C
2 papers
NM_002156.5
p.F305L
c.915T>G
2 papers
NM_002156.5
p.F305L
c.915T>A
1 paper
NM_002156.5
p.N308_R309insA
c.922_926ins3
1 paper
NM_002156.5
p.R309K
c.926G>A
1 paper
NM_002156.5
p.D315N
c.943G>A
1 paper
NM_002156.5
p.D315E
c.945T>G
1 paper
NM_002156.5
p.D315E
c.945T>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."