Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.Q789*

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
9 papers
NM_001256864.2
p.Q789*
c.2365C>T
Surrounding Variants
4 papers
NM_001256864.2
p.Q791*
c.2371C>T
1 paper
NM_001256864.2
p.A784V
c.2351C>T
1 paper
NM_001256864.2
p.G783D
c.2348G>A
1 paper
NM_001256864.2
p.G782G
c.2346A>T
1 paper
NM_001256864.2
p.G778R
c.2332G>A
1 paper
NM_001256864.2
p.G778R
c.2332G>C
1 paper
NM_001256864.2
p.S801_P807del7
c.2401_2420del21
1 paper
NM_001256864.2
p.M775R
c.2324T>G
1 paper
NM_001256864.2
p.Q804*
c.2410C>T
6 papers
NM_001256864.2
p.R806*
c.2416C>T
1 paper
NM_001256864.2
p.P807T
c.2419C>A
2 papers
NM_001256864.2
p.A770V
c.2309C>T
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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."