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

7 papers

NM_020865.3

p.E335A

c.1004A>C

Surrounding Variants

1 paper

NM_020865.3

p.I336V

c.1006A>G

1 paper

NM_020865.3

p.L333V

c.997C>G

1 paper

NM_020865.3

p.E338K

c.1012G>A

1 paper

NM_020865.3

p.V332A

c.995T>C

1 paper

NM_020865.3

p.I331I

c.993C>T

1 paper

NM_020865.3

p.S329N

c.986G>A

1 paper

NM_020865.3

p.Q342*

c.1024C>T

1 paper

NM_020865.3

p.Q342R

c.1025A>G

1 paper

NM_020865.3

p.S326P

c.976T>C

1 paper

NM_020865.3

p.D352H

c.1054G>C

1 paper

NM_020865.3

p.L353F

c.1057C>T

1 paper

NM_020865.3

p.R357L

c.1070G>T