Varaico: Literature-Extracted Genetic Variants

DHX40

131 papers

RefSeq Summary

This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudoge...

Pfam Domains

DEADaa 53–221UCSCDEAD/DEAH box helicase

Helicase_Caa 255–401UCSCHelicase conserved C-terminal domain

WHD_HA2aa 463–491UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 492–556UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 619–699UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAH-box helicase 40

HGNC Previous Symbol

DDX40

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024612.5

p.R3Q

c.8G>A

Surrounding Variants

1 paper

NM_024612.5

p.R3insFs

c.9dupG

1 paper

NM_024612.5

p.S2S

c.6C>A

1 paper

NM_024612.5

p.M1V

c.1A>G

2 papers

NM_024612.5

p.P12A

c.34C>G

1 paper

NM_024612.5

p.P12L

c.35C>T

1 paper

NM_024612.5

p.S44A

c.130T>G

1 paper

NM_024612.5

p.E46Q

c.136G>C

1 paper

NM_024612.5

p.T50A

c.148A>G

1 paper

NM_024612.5

p.T50N

c.149C>A

1 paper

NM_024612.5

p.R59*

c.175A>T

1 paper

NM_024612.5

p.N69Y

c.205A>T

1 paper

NM_024612.5

p.T75T

c.225T>A