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

2 papers

NM_001357.5

p.G416R

c.1246G>A

Surrounding Variants

2 papers

NM_001357.5

p.G416R

c.1246G>C

1 paper

NM_001357.5

p.K417E

c.1249A>G

4 papers

NM_001357.5

p.K417R

c.1250A>G

1 paper

NM_001357.5

p.K417N

c.1251A>C

1 paper

NM_001357.5

p.K417N

c.1251A>T

2 papers

NM_001357.5

p.G414R

c.1240G>A

2 papers

NM_001357.5

p.G414R

c.1240G>C

2 papers

NM_001357.5

p.G411E

c.1232G>A

1 paper

NM_001357.5

p.V421I

c.1261G>A

1 paper

NM_001357.5

p.Q423Q

c.1269G>A

1 paper

NM_001357.5

p.D428N

c.1282G>A

1 paper

NM_001357.5

p.Q403fs

c.1207_1208fs