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

1–12 of 256 variants

8 papers

NM_020865.3

p.S416C

c.1247C>G

7 papers

NM_020865.3

p.E335A

c.1004A>C

4 papers

NM_020865.3

p.M154fs

c.460_461fs

2 papers

NM_020865.3

p.E151K

c.451G>A

2 papers

NM_020865.3

p.M154delFs

c.460delT

2 papers

NM_020865.3

p.V272F

c.814G>T

2 papers

NM_020865.3

p.P323Splc

c.968+1G>A

2 papers

NM_020865.3

p.P392L

c.1175C>T

2 papers

NM_020865.3

p.I560V

c.1678A>G

2 papers

NM_020865.3

p.N582S

c.1745A>G

2 papers

NM_020865.3

p.R1001*

c.3001C>T

1 paper

NM_020865.3

p.D12_G13insFs

c.36_37insG