Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.A51P

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.A51P
c.151G>C
Surrounding Variants
1 paper
NM_001256864.2
p.R52G
c.154C>G
1 paper
NM_001256864.2
p.Q53_P54insFs
c.159_160ins4
1 paper
NM_001256864.2
p.A47V
c.140C>T
1 paper
NM_001256864.2
p.P55L
c.164C>T
1 paper
NM_001256864.2
p.R57S
c.169C>A
1 paper
NM_001256864.2
p.R57L
c.170G>T
1 paper
NM_001256864.2
p.G44A
c.131G>C
1 paper
NM_001256864.2
p.G44R
c.130G>A
1 paper
NM_001256864.2
p.A58T
c.172G>A
1 paper
NM_001256864.2
p.G44R
c.130G>C
1 paper
NM_001256864.2
p.N42fs
c.124_125fs
1 paper
NM_001256864.2
p.N42delFs
c.125delA
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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."