Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.I64insFs

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.I64insFs
c.190dupA
Surrounding Variants
2 papers
NM_002156.5
p.I63T
c.188T>C
1 paper
NM_002156.5
p.V62A
c.185T>C
3 papers
NM_002156.5
p.T61I
c.182C>T
1 paper
NM_002156.5
p.G69R
c.205G>A
1 paper
NM_002156.5
p.G59R
c.175G>C
1 paper
NM_002156.5
p.G59R
c.175G>A
1 paper
NM_002156.5
p.K72E
c.214A>G
1 paper
NM_002156.5
p.K72T
c.215A>C
1 paper
NM_002156.5
p.T74T
c.222A>T
1 paper
NM_002156.5
p.T74T
c.222A>G
1 paper
NM_002156.5
p.K75*
c.223A>T
1 paper
NM_002156.5
p.D76V
c.227A>T
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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."