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.V393A

c.1178T>C

Surrounding Variants

2 papers

NM_020865.3

p.P392L

c.1175C>T

1 paper

NM_020865.3

p.E395K

c.1183G>A

1 paper

NM_020865.3

p.T390fs

c.1168_1169fs

1 paper

NM_020865.3

p.G388A

c.1163G>C

1 paper

NM_020865.3

p.I386T

c.1157T>C

1 paper

NM_020865.3

p.H385Y

c.1153C>T

1 paper

NM_020865.3

p.H385D

c.1153C>G

1 paper

NM_020865.3

p.C381R

c.1141T>C

1 paper

NM_020865.3

p.G379V

c.1136G>T

1 paper

NM_020865.3

p.L369F

c.1107G>T

1 paper

NM_020865.3

p.L369F

c.1107G>C

1 paper

NM_020865.3

p.L364M

c.1090T>A