Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.G570S

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.G570S
c.1708G>A
Surrounding Variants
1 paper
NM_002156.5
p.G571D
c.1712G>A
1 paper
NM_002156.5
p.G567_M568ins1
c.1701_1702insAAT
14 papers
NM_002156.5
p.G563A
c.1688G>C
1 paper
NM_002156.5
p.G563E
c.1688G>A
1 paper
NM_002156.5
p.G562D
c.1685G>A
2 papers
NM_002156.5
p.G559D
c.1676G>A
1 paper
NM_002156.5
p.M558I
c.1674G>T
1 paper
NM_002156.5
p.M558I
c.1674G>C
1 paper
NM_002156.5
p.M558I
c.1674G>A
1 paper
NM_002156.5
p.D555G
c.1664A>G
1 paper
NM_002156.5
p.T547I
c.1640C>T
1 paper
NM_002156.5
p.E543K
c.1627G>A
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