Varaico: Literature-Extracted Genetic Variants

DHX9

255 papers

RefSeq Summary

This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. Thi...

Pfam Domains

dsrmaa 4–69UCSCDouble-stranded RNA binding motif

dsrmaa 181–250UCSCDouble-stranded RNA binding motif

DEADaa 391–551UCSCDEAD/DEAH box helicase

Helicase_Caa 635–769UCSCHelicase conserved C-terminal domain

WHD_HA2aa 832–860UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 861–918UCSCHelicase associated domain (HA2), ratchet-like

Gene Aliases

HGNC Name

DExH-box helicase 9

HGNC Previous Symbols

LKP; DDX9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001357.5

p.D511A

c.1532A>C

Surrounding Variants

1 paper

NM_001357.5

p.D511N

c.1531G>A

3 papers

NM_001357.5

p.E512A

c.1535A>C

1 paper

NM_001357.5

p.I513V

c.1537A>G

1 paper

NM_001357.5

p.I509T

c.1526T>C

1 paper

NM_001357.5

p.E515K

c.1543G>A

1 paper

NM_001357.5

p.R496I

c.1487G>T

1 paper

NM_001357.5

p.A484D

c.1451C>A

1 paper

NM_001357.5

p.R474Q

c.1421G>A

1 paper

NM_001357.5

p.R474*

c.1420C>T

1 paper

NM_001357.5

p.V473I

c.1417G>A

1 paper

NM_001357.5

p.S472S

c.1416C>T

1 paper

NM_001357.5

p.Y471*

c.1413C>A