Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.M235delFs

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.M235delFs
c.705delG
Surrounding Variants
1 paper
NM_001256864.2
p.M235fs
c.703_704fs
1 paper
NM_001256864.2
p.G233D
c.698G>A
1 paper
NM_001256864.2
p.G233S
c.697G>A
2 papers
NM_001256864.2
p.A226V
c.677C>T
1 paper
NM_001256864.2
p.P245R
c.734C>G
2 papers
NM_001256864.2
p.R225Q
c.674G>A
1 paper
NM_001256864.2
p.G224*
c.670G>T
1 paper
NM_001256864.2
p.I249V
c.745A>G
6 papers
NM_001256864.2
p.R256*
c.766C>T
1 paper
NM_001256864.2
p.G258E
c.773G>A
1 paper
NM_001256864.2
p.R267insFs
c.800_801insA
1 paper
NM_001256864.2
p.R267Splc
c.800+4A>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."