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.V205V

c.615T>A

Surrounding Variants

1 paper

NM_001358.3

p.D210N

c.628G>A

1 paper

NM_001358.3

p.V201M

c.601G>A

1 paper

NM_001358.3

p.Q215*

c.643C>T

4 papers

NM_001358.3

p.E216A

c.647A>C

1 paper

NM_001358.3

p.R194M

c.581G>T

1 paper

NM_001358.3

p.Q192R

c.575A>G

1 paper

NM_001358.3

p.I221S

c.662T>G

20 papers

NM_001358.3

p.R222G

c.664C>G

1 paper

NM_001358.3

p.F223V

c.667T>G

1 paper

NM_001358.3

p.E224E

c.672A>G

1 paper

NM_001358.3

p.S227fs

c.679_680fs

1 paper

NM_001358.3

p.G183*

c.547G>T