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

2 papers

NM_001358.3

p.H102Y

c.304C>T

Surrounding Variants

1 paper

NM_001358.3

p.T101M

c.302C>T

1 paper

NM_001358.3

p.S94_H102del0

c.280_306del27

1 paper

NM_001358.3

p.H99R

c.296A>G

1 paper

NM_001358.3

p.H99Y

c.295C>T

1 paper

NM_001358.3

p.H105L

c.314A>T

1 paper

NM_001358.3

p.A106T

c.316G>A

1 paper

NM_001358.3

p.H108delFs

c.322_323delTG

1 paper

NM_001358.3

p.S110P

c.328T>C

1 paper

NM_001358.3

p.T92T

c.276G>T

1 paper

NM_001358.3

p.S91delFs

c.272_273delTG

1 paper

NM_001358.3

p.S91*

c.272C>A

3 papers

NM_001358.3

p.Q113*

c.337C>T