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.K120R

c.359A>G

Surrounding Variants

1 paper

NM_001357.5

p.A121fs

c.361_362fs

1 paper

NM_001357.5

p.A121insFs

c.362_363ins14

1 paper

NM_001357.5

p.A121G

c.362C>G

1 paper

NM_001357.5

p.E122A

c.365A>C

1 paper

NM_001357.5

p.P114L

c.341C>T

2 papers

NM_001357.5

p.G111R

c.331G>A

1 paper

NM_001357.5

p.G111R

c.331G>C

1 paper

NM_001357.5

p.M109K

c.326T>A

1 paper

NM_001357.5

p.L105_P106delFs

c.313_317del5

1 paper

NM_001357.5

p.G103A

c.308G>C

2 papers

NM_001357.5

p.E102_G103del1

c.306_308delAGG

1 paper

NM_001357.5

p.E102K

c.304G>A