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.R1001*

c.3001C>T

Surrounding Variants

1 paper

NM_020865.3

p.P999L

c.2996C>T

1 paper

NM_020865.3

p.S1008N

c.3023G>A

1 paper

NM_020865.3

p.I984V

c.2950A>G

1 paper

NM_020865.3

p.A982D

c.2945C>A

1 paper

NM_020865.3

p.A982P

c.2944G>C

1 paper

NM_020865.3

p.D976N

c.2926G>A

1 paper

NM_020865.3

p.N970D

c.2908A>G

1 paper

NM_020865.3

p.W969*

c.2907G>A

1 paper

NM_020865.3

p.W969*

c.2906G>A

1 paper

NM_020865.3

p.Q958*

c.2872C>T

1 paper

NM_020865.3

p.L953P

c.2858T>C

1 paper

NM_020865.3

p.V946A

c.2837T>C