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

3 papers

NM_001358.3

p.S164F

c.491C>T

Surrounding Variants

1 paper

NM_001358.3

p.S164_G165ins2

c.492_493ins6

1 paper

NM_001358.3

p.G163insFs

c.488_489insAA

1 paper

NM_001358.3

p.E161A

c.482A>C

1 paper

NM_001358.3

p.Q169H

c.507G>T

1 paper

NM_001358.3

p.Q169H

c.507G>C

1 paper

NM_001358.3

p.R152K

c.455G>A

1 paper

NM_001358.3

p.K143K

c.429G>A

1 paper

NM_001358.3

p.W140_E141delFs

c.420_421delCC

1 paper

NM_001358.3

p.V139L

c.415G>C

1 paper

NM_001358.3

p.L137F

c.409C>T

3 papers

NM_001358.3

p.Y128*

c.384T>A

1 paper

NM_001358.3

p.R126Q

c.377G>A