Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.L444P

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
2 papers
NM_002156.5
p.L444P
c.1331T>C
Surrounding Variants
1 paper
NM_002156.5
p.L445_R446ins9
c.1333_1337ins27
1 paper
NM_002156.5
p.C447Y
c.1340G>A
1 paper
NM_002156.5
p.I448S
c.1343T>G
1 paper
NM_002156.5
p.G440A
c.1319G>C
1 paper
NM_002156.5
p.L451_D452delFs
c.1352_1356del5
1 paper
NM_002156.5
p.E434A
c.1301A>C
1 paper
NM_002156.5
p.V432D
c.1295T>A
1 paper
NM_002156.5
p.N458Y
c.1372A>T
1 paper
NM_002156.5
p.E459G
c.1376A>G
1 paper
NM_002156.5
p.T428I
c.1283C>T
7 papers
NM_002156.5
p.Q461E
c.1381C>G
1 paper
NM_002156.5
p.Q461K
c.1381C>A
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