Varaico: Literature-Extracted Genetic Variants

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

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

9 papers

NM_001256864.2

p.M133L

c.397A>T

Surrounding Variants

8 papers

NM_001256864.2

p.M133L

c.397A>C

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

1 paper

NM_001256864.2

p.V132Splc

c.395-45C>T

4 papers

NM_001256864.2

p.R152*

c.454C>T

1 paper

NM_001256864.2

p.R152Q

c.455G>A

1 paper

NM_001256864.2

p.D156Y

c.466G>T

1 paper

NM_001256864.2

p.S157delFs

c.471delC

1 paper

NM_001256864.2

p.R158fs

c.472_473fs