Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.I468V

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.I468V
c.1402A>G
Surrounding Variants
1 paper
NM_002156.5
p.K473Q
c.1417A>C
1 paper
NM_002156.5
p.P475L
c.1424C>T
1 paper
NM_002156.5
p.M477V
c.1429A>G
1 paper
NM_002156.5
p.G484D
c.1451G>A
1 paper
NM_002156.5
p.V485I
c.1453G>A
1 paper
NM_002156.5
p.G487*
c.1459G>T
1 paper
NM_002156.5
p.S488T
c.1462T>A
1 paper
NM_002156.5
p.S498S
c.1494C>T
2 papers
NM_002156.5
p.D504N
c.1510G>A
1 paper
NM_002156.5
p.A505T
c.1513G>A
1 paper
NM_002156.5
p.M506V
c.1516A>G
1 paper
NM_002156.5
p.M506_A507insFs
c.1518_1519insTC
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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."