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

1 paper

NM_020865.3

p.V946A

c.2837T>C

Surrounding Variants

1 paper

NM_020865.3

p.Q925*

c.2773C>T

1 paper

NM_020865.3

p.D924N

c.2770G>A

1 paper

NM_020865.3

p.D922G

c.2765A>G

1 paper

NM_020865.3

p.Q920*

c.2758C>T

1 paper

NM_020865.3

p.G914fs

c.2740_2741fs

1 paper

NM_020865.3

p.L910F

c.2728C>T

1 paper

NM_020865.3

p.P907Q

c.2720C>A

1 paper

NM_020865.3

p.T903I

c.2708C>T

1 paper

NM_020865.3

p.D901E

c.2703C>G

1 paper

NM_020865.3

p.D901E

c.2703C>A

1 paper

NM_020865.3

p.D901G

c.2702A>G

1 paper

NM_020865.3

p.Y898H

c.2692T>C