Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC6
Variant:p.T124S

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.T124S
c.370A>T
Surrounding Variants
1 paper
NM_001256864.2
p.T124S
c.371C>G
1 paper
NM_001256864.2
p.S128T
c.382T>A
1 paper
NM_001256864.2
p.S115S
c.345C>T
1 paper
NM_001256864.2
p.V132Splc
c.394+1G>C
1 paper
NM_001256864.2
p.V132Splc
c.395-45C>T
8 papers
NM_001256864.2
p.M133L
c.397A>C
9 papers
NM_001256864.2
p.M133L
c.397A>T
1 paper
NM_001256864.2
p.S134F
c.401C>T
1 paper
NM_001256864.2
p.F135delFs
c.404delT
1 paper
NM_001256864.2
p.L137M
c.409C>A
1 paper
NM_001256864.2
p.V140V
c.420T>A
1 paper
NM_001256864.2
p.Q147K
c.439C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."