Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.T115A

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.T115A
c.343A>G
Surrounding Variants
1 paper
NM_002156.5
p.L119L
c.357G>T
1 paper
NM_002156.5
p.A120V
c.359C>T
1 paper
NM_002156.5
p.A109T
c.325G>A
1 paper
NM_002156.5
p.R121S
c.361C>A
1 paper
NM_002156.5
p.E108A
c.323A>C
1 paper
NM_002156.5
p.T105T
c.315A>T
1 paper
NM_002156.5
p.T105A
c.313A>G
1 paper
NM_002156.5
p.K125R
c.374A>G
1 paper
NM_002156.5
p.N103insFs
c.308_309insA
1 paper
NM_002156.5
p.N103K
c.309T>A
1 paper
NM_002156.5
p.A102D
c.305C>A
1 paper
NM_002156.5
p.F128Y
c.383T>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."