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

1 paper

NM_001256864.2

p.Q804*

c.2410C>T

Surrounding Variants

6 papers

NM_001256864.2

p.R806*

c.2416C>T

1 paper

NM_001256864.2

p.P807T

c.2419C>A

1 paper

NM_001256864.2

p.S801_P807del7

c.2401_2420del21

1 paper

NM_001256864.2

p.V811G

c.2432T>G

1 paper

NM_001256864.2

p.F813_E822del10

c.2437_2465del30

4 papers

NM_001256864.2

p.Q791*

c.2371C>T

9 papers

NM_001256864.2

p.Q789*

c.2365C>T

1 paper

NM_001256864.2

p.Q820fs

c.2458_2459fs

1 paper

NM_001256864.2

p.E822K

c.2464G>A

1 paper

NM_001256864.2

p.R823C

c.2467C>T

1 paper

NM_001256864.2

p.G824_S828del5

c.2470_2483del15

2 papers

NM_001256864.2

p.R823H

c.2468G>A