Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.R309H

DNAJC6

260 papers

RefSeq Summary

DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domain...

Pfam Domains

PTEN_C2aa 226–365UCSCC2 domain of PTEN tumour-suppressor protein
PTEN_C2aa 226–365UCSCC2 domain of PTEN tumour-suppressor protein

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C6

HGNC Alias Symbols

KIAA0473; PARK19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256864.2
p.R309H
c.926G>A
Surrounding Variants
1 paper
NM_001256864.2
p.R309C
c.925C>T
1 paper
NM_001256864.2
p.Y311C
c.932A>G
1 paper
NM_001256864.2
p.N306S
c.917A>G
2 papers
NM_001256864.2
p.V314G
c.941T>G
1 paper
NM_001256864.2
p.I321V
c.961A>G
1 paper
NM_001256864.2
p.I321L
c.961A>T
1 paper
NM_001256864.2
p.I321insFs
c.962_963insA
1 paper
NM_001256864.2
p.I321delFs
c.963delA
1 paper
NM_001256864.2
p.V295V
c.885C>T
1 paper
NM_001256864.2
p.T294T
c.882T>G
1 paper
NM_001256864.2
p.T324insFs
c.971_972insAT
1 paper
NM_001256864.2
p.T294A
c.880A>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."