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

1–12 of 216 variants

20 papers

NM_001358.3

p.R222G

c.664C>G

4 papers

NM_001358.3

p.E216A

c.647A>C

4 papers

NM_001358.3

p.E261Q

c.781G>C

3 papers

NM_001358.3

p.Q113*

c.337C>T

3 papers

NM_001358.3

p.Y128*

c.384T>A

3 papers

NM_001358.3

p.S164F

c.491C>T

2 papers

NM_001358.3

p.G16S

c.46G>A

2 papers

NM_001358.3

p.R29*

c.85C>T

2 papers

NM_001358.3

p.R40*

c.118C>T

2 papers

NM_001358.3

p.E56K

c.166G>A

2 papers

NM_001358.3

p.H102Y

c.304C>T

2 papers

NM_001358.3

p.D260A

c.779A>C