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.Q304*

c.910C>T

Surrounding Variants

1 paper

NM_020865.3

p.G305G

c.915T>G

1 paper

NM_020865.3

p.R302K

c.905G>A

1 paper

NM_020865.3

p.S306T

c.916T>A

1 paper

NM_020865.3

p.Y309H

c.925T>C

1 paper

NM_020865.3

p.R299W

c.895C>T

1 paper

NM_020865.3

p.T312S

c.934A>T

1 paper

NM_020865.3

p.T312I

c.935C>T

1 paper

NM_020865.3

p.D322E

c.966C>G

1 paper

NM_020865.3

p.D322E

c.966C>A

2 papers

NM_020865.3

p.P323Splc

c.968+1G>A

1 paper

NM_020865.3

p.S326P

c.976T>C

1 paper

NM_020865.3

p.S329N

c.986G>A