Varaico: Literature-Extracted Genetic Variants

DHX36

84 papers

RefSeq Summary

This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been sho...

Pfam Domains

DEADaa 210–376UCSCDEAD/DEAH box helicase

Helicase_Caa 473–607UCSCHelicase conserved C-terminal domain

WHD_HA2aa 670–698UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 699–759UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 831–917UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

RNA_hel_CTDaa 926–989UCSCC-terminal domain in RNA helicases

Gene Aliases

HGNC Name

DEAH-box helicase 36

HGNC Previous Symbol

DDX36

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020865.3

p.I560V

c.1678A>G

Surrounding Variants

1 paper

NM_020865.3

p.T559S

c.1676C>G

1 paper

NM_020865.3

p.T559S

c.1675A>T

1 paper

NM_020865.3

p.D561V

c.1682A>T

1 paper

NM_020865.3

p.D562G

c.1685A>G

1 paper

NM_020865.3

p.V564F

c.1690G>T

1 paper

NM_020865.3

p.V564I

c.1690G>A

1 paper

NM_020865.3

p.T575M

c.1724C>T

2 papers

NM_020865.3

p.N582S

c.1745A>G

1 paper

NM_020865.3

p.G601V

c.1802G>T

1 paper

NM_020865.3

p.R602*

c.1804C>T

1 paper

NM_020865.3

p.A603T

c.1807G>A

1 paper

NM_020865.3

p.A603G

c.1808C>G