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.M154delFs

c.460delT

Surrounding Variants

1 paper

NM_020865.3

p.M154insFs

c.460dupA

4 papers

NM_020865.3

p.M154fs

c.460_461fs

1 paper

NM_020865.3

p.R156I

c.467G>T

1 paper

NM_020865.3

p.R156T

c.467G>C

2 papers

NM_020865.3

p.E151K

c.451G>A

1 paper

NM_020865.3

p.R158T

c.473G>C

1 paper

NM_020865.3

p.L184F

c.552A>T

1 paper

NM_020865.3

p.L184F

c.552A>C

1 paper

NM_020865.3

p.D194E

c.582C>G

1 paper

NM_020865.3

p.D194E

c.582C>A

1 paper

NM_020865.3

p.Y197C

c.590A>G

1 paper

NM_020865.3

p.M200I

c.600G>T