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

1 paper

NM_001357.5

p.E79G

c.236A>G

Surrounding Variants

2 papers

NM_001357.5

p.V80D

c.239T>A

1 paper

NM_001357.5

p.P81R

c.242C>G

2 papers

NM_001357.5

p.K76R

c.227A>G

1 paper

NM_001357.5

p.R71*

c.211C>T

1 paper

NM_001357.5

p.F65S

c.194T>C

1 paper

NM_001357.5

p.R63*

c.187A>T

1 paper

NM_001357.5

p.A61T

c.181G>A

1 paper

NM_001357.5

p.S59S

c.177C>T

1 paper

NM_001357.5

p.D56N

c.166G>A

1 paper

NM_001357.5

p.D56H

c.166G>C

1 paper

NM_001357.5

p.N53fs

c.157_158fs

1 paper

NM_001357.5

p.N53insFs

c.157_158insT