Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.R267R

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.R267R
c.801A>G
Surrounding Variants
1 paper
NM_001256864.2
p.Y268delFs
c.803delA
27 papers
NM_001256864.2
p.R267Splc
c.801-2A>G
1 paper
NM_001256864.2
p.L269delFs
c.805delC
1 paper
NM_001256864.2
p.R267_L269delFs
c.801_807del7
1 paper
NM_001256864.2
p.Y271_D274delFs
c.813_822del10
1 paper
NM_001256864.2
p.M272fs
c.814_815fs
1 paper
NM_001256864.2
p.L275L
c.823C>T
1 paper
NM_001256864.2
p.L275fs
c.823_824fs
1 paper
NM_001256864.2
p.L275_L276delFs
c.824_828del5
4 papers
NM_001256864.2
p.A277T
c.829G>A
1 paper
NM_001256864.2
p.P280R
c.839C>G
1 paper
NM_001256864.2
p.R282C
c.844C>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."