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.W11L

c.32G>T

Surrounding Variants

1 paper

NM_001357.5

p.C12Y

c.35G>A

1 paper

NM_001357.5

p.Y9*

c.27T>A

1 paper

NM_001357.5

p.A10delFs

c.28delG

1 paper

NM_001357.5

p.K14Q

c.40A>C

1 paper

NM_001357.5

p.R15M

c.44G>T

1 paper

NM_001357.5

p.M1ins1

c.2_3insCAG

1 paper

NM_001357.5

p.M1V

c.1A>G

1 paper

NM_001357.5

p.N28del1

c.82_83delAAC

1 paper

NM_001357.5

p.K29R

c.86A>G

1 paper

NM_001357.5

p.K33R

c.98A>G

1 paper

NM_001357.5

p.F34Y

c.101T>A

2 papers

NM_001357.5

p.F34_M35delFs

c.102_103delCA