Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.G703Splc

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.G703Splc
c.2108-21A>G
Surrounding Variants
1 paper
NM_001256864.2
p.G706R
c.2116G>A
1 paper
NM_001256864.2
p.G706R
c.2116G>C
2 papers
NM_001256864.2
p.G703Splc
c.2108-53C>G
1 paper
NM_001256864.2
p.G708R
c.2122G>A
1 paper
NM_001256864.2
p.G708R
c.2122G>C
1 paper
NM_001256864.2
p.G718R
c.2152G>A
1 paper
NM_001256864.2
p.G718R
c.2152G>C
5 papers
NM_001256864.2
p.S720L
c.2159C>T
7 papers
NM_001256864.2
p.S728N
c.2183G>A
NM_014787.4
p.S671N
c.2012G>A
1 paper
NM_001256864.2
p.S728delFs
c.2184delC
1 paper
NM_001256864.2
p.P730L
c.2189C>T
7 papers
NM_001256864.2
p.T741T
c.2223A>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."