Varaico: Literature-Extracted Genetic Variants

DHX15

172 papers

RefSeq Summary

The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008].

Pfam Domains

DEADaa 142–301UCSCDEAD/DEAH box helicase

Helicase_Caa 334–477UCSCHelicase conserved C-terminal domain

WHD_HA2aa 539–567UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 568–627UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 689–765UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAH-box helicase 15

HGNC Previous Symbol

DDX15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001358.3

p.R40R

c.120A>T

Surrounding Variants

2 papers

NM_001358.3

p.R40*

c.118C>T

1 paper

NM_001358.3

p.R44C

c.130C>T

1 paper

NM_001358.3

p.R36W

c.106C>T

1 paper

NM_001358.3

p.R33H

c.98G>A

1 paper

NM_001358.3

p.R31R

c.93G>A

1 paper

NM_001358.3

p.R31L

c.92G>T

1 paper

NM_001358.3

p.R31W

c.91C>T

1 paper

NM_001358.3

p.R51*

c.151C>T

1 paper

NM_001358.3

p.R51G

c.151C>G

1 paper

NM_001358.3

p.E52*

c.154G>T

2 papers

NM_001358.3

p.R29*

c.85C>T

1 paper

NM_001358.3

p.R27L

c.80G>T