Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.V17I

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.V17I
c.49G>A
Surrounding Variants
1 paper
NM_002156.5
p.S15delFs
c.44delG
1 paper
NM_002156.5
p.L18Q
c.53T>A
1 paper
NM_002156.5
p.S15S
c.45C>G
1 paper
NM_002156.5
p.P20S
c.58C>T
1 paper
NM_002156.5
p.P13Q
c.38C>A
1 paper
NM_002156.5
p.H21Y
c.61C>T
1 paper
NM_002156.5
p.R12K
c.35G>A
5 papers
NM_002156.5
p.T23T
c.69T>C
1 paper
NM_002156.5
p.Q10R
c.29A>G
2 papers
NM_002156.5
p.Q10K
c.28C>A
1 paper
NM_002156.5
p.R9R
c.27C>G
8 papers
NM_002156.5
p.R24R
c.72G>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."