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.L988V

c.2962T>G

Surrounding Variants

1 paper

NM_001357.5

p.P984fs

c.2950_2951fs

2 papers

NM_001357.5

p.N981D

c.2941A>G

1 paper

NM_001357.5

p.F979L

c.2937T>A

1 paper

NM_001357.5

p.F979L

c.2937T>G

1 paper

NM_001357.5

p.F979L

c.2935T>C

1 paper

NM_001357.5

p.C973_L975del0

c.2917_2925del9

1 paper

NM_001357.5

p.K1007R

c.3020A>G

1 paper

NM_001357.5

p.R1018H

c.3053G>A

1 paper

NM_001357.5

p.H1023Q

c.3069C>A

1 paper

NM_001357.5

p.H1023Q

c.3069C>G

2 papers

NM_001357.5

p.P1030L

c.3089C>T

1 paper

NM_001357.5

p.R1050*

c.3148C>T