Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.A48D

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.A48D
c.143C>A
Surrounding Variants
1 paper
NM_002156.5
p.D49A
c.146A>C
6 papers
NM_002156.5
p.L47V
c.139T>G
2 papers
NM_002156.5
p.A50S
c.148G>T
1 paper
NM_002156.5
p.A50V
c.149C>T
1 paper
NM_002156.5
p.A50A
c.150T>G
1 paper
NM_002156.5
p.A50A
c.150T>C
1 paper
NM_002156.5
p.A50A
c.150T>A
2 papers
NM_002156.5
p.L46F
c.136C>T
1 paper
NM_002156.5
p.V51insFs
c.151_152insC
1 paper
NM_002156.5
p.D45Y
c.133G>T
2 papers
NM_002156.5
p.A52V
c.155C>T
1 paper
NM_002156.5
p.A52G
c.155C>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."