Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.G654D

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
2 papers
NM_001256864.2
p.G654D
c.1961G>A
NM_014787.4
p.G597D
c.1790G>A
Surrounding Variants
1 paper
NM_001256864.2
p.F656S
c.1967T>C
1 paper
NM_001256864.2
p.P647S
c.1939C>T
4 papers
NM_001256864.2
p.S661S
c.1983T>C
6 papers
NM_001256864.2
p.P670P
c.2010A>C
1 paper
NM_001256864.2
p.T671S
c.2011A>T
1 paper
NM_001256864.2
p.P674S
c.2020C>T
1 paper
NM_001256864.2
p.S675L
c.2024C>T
1 paper
NM_014787.4
p.P619S
c.1855C>T
1 paper
NM_001256864.2
p.V678insFs
c.2032_2033insA
1 paper
NM_001256864.2
p.H679P
c.2036A>C
1 paper
NM_001256864.2
p.H679R
c.2036A>G
7 papers
NM_001256864.2
p.A680Splc
c.2038+3A>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."