Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.A95D

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.A95D
c.284C>A
Surrounding Variants
1 paper
NM_002156.5
p.G94V
c.281G>T
1 paper
NM_002156.5
p.K96I
c.287A>T
1 paper
NM_002156.5
p.G94R
c.280G>C
1 paper
NM_002156.5
p.G94R
c.280G>A
1 paper
NM_002156.5
p.I93M
c.279T>G
2 papers
NM_002156.5
p.V98L
c.292G>C
20 papers
NM_002156.5
p.V98I
c.292G>A
1 paper
NM_002156.5
p.V98A
c.293T>C
1 paper
NM_002156.5
p.N92S
c.275A>G
1 paper
NM_002156.5
p.N92D
c.274A>G
5 papers
NM_002156.5
p.K91K
c.273A>G
1 paper
NM_002156.5
p.D100N
c.298G>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."