Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.E17D

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.E17D
c.51A>T
Surrounding Variants
1 paper
NM_001256864.2
p.E17D
c.51A>C
1 paper
NM_001256864.2
p.N13D
c.37A>G
1 paper
NM_001256864.2
p.D23G
c.68A>G
1 paper
NM_001256864.2
p.S24delFs
c.70delA
1 paper
NM_001256864.2
p.T11A
c.31A>G
1 paper
NM_001256864.2
p.Y7D
c.19T>G
1 paper
NM_001256864.2
p.L28_S29insFs
c.84_85insGC
1 paper
NM_001256864.2
p.Y7insFs
c.19dupT
7 papers
NM_001256864.2
p.A30P
c.88G>C
1 paper
NM_001256864.2
p.A30insFs
c.89_90ins8
1 paper
NM_001256864.2
p.A30E
c.89C>A
1 paper
NM_001256864.2
p.A30G
c.89C>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."