Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.I84N

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.I84N
c.251T>A
Surrounding Variants
1 paper
NM_002156.5
p.I84V
c.250A>G
1 paper
NM_002156.5
p.L86I
c.256T>A
1 paper
NM_002156.5
p.K82K
c.246G>A
1 paper
NM_002156.5
p.K82insFs
c.244_245insT
1 paper
NM_002156.5
p.V80I
c.238G>A
1 paper
NM_002156.5
p.V78V
c.234G>A
2 papers
NM_002156.5
p.V78A
c.233T>C
1 paper
NM_002156.5
p.V78E
c.233T>A
5 papers
NM_002156.5
p.K91K
c.273A>G
1 paper
NM_002156.5
p.N92D
c.274A>G
1 paper
NM_002156.5
p.D76V
c.227A>T
1 paper
NM_002156.5
p.N92S
c.275A>G
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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."