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.V558A

c.1673T>C

Surrounding Variants

2 papers

NM_024612.5

p.E542K

c.1624G>A

1 paper

NM_024612.5

p.C573R

c.1717T>C

1 paper

NM_024612.5

p.R581R

c.1743G>A

1 paper

NM_024612.5

p.R620Q

c.1859G>A

1 paper

NM_024612.5

p.R634K

c.1901G>A

1 paper

NM_024612.5

p.R634Splc

c.1902-1G>C

1 paper

NM_024612.5

p.A681T

c.2041G>A

2 papers

NM_024612.5

p.R688H

c.2063G>A

2 papers

NM_001166301.2

p.W614*

c.1841G>A

NM_024612.5

p.W691*

c.2072G>A

2 papers

NM_001166301.2

p.W614*

c.1842G>A

NM_024612.5

p.W691*

c.2073G>A

1 paper

NM_024612.5

p.E701V

c.2102A>T

1 paper

NM_024612.5

p.V710_R713del4

c.2128_2138del12