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

1–12 of 256 variants

9 papers

NM_001357.5

p.V40G

c.119T>G

6 papers

NM_001357.5

p.R1052Q

c.3155G>A

4 papers

NM_001357.5

p.K417R

c.1250A>G

4 papers

NM_001357.5

p.D511A

c.1532A>C

3 papers

NM_001357.5

p.E512A

c.1535A>C

2 papers

NM_001357.5

p.F34_M35delFs

c.102_103delCA

2 papers

NM_001357.5

p.K76R

c.227A>G

2 papers

NM_001357.5

p.V80D

c.239T>A

2 papers

NM_001357.5

p.P89A

c.265C>G

2 papers

NM_001357.5

p.E102_G103del2

c.304_308del6

2 papers

NM_001357.5

p.E102_G103del1

c.306_308delAGG

2 papers

NM_001357.5

p.G111R

c.331G>A