Varaico: Literature-Extracted Genetic Variants

DHX8

120 papers

RefSeq Summary

This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as ...

Pfam Domains

S1aa 261–336UCSCS1 RNA binding domain

DEADaa 568–726UCSCDEAD/DEAH box helicase

Helicase_Caa 759–895UCSCHelicase conserved C-terminal domain

WHD_HA2aa 957–985UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 986–1045UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 1103–1155UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAH-box helicase 8

HGNC Previous Symbol

DDX8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004941.3

p.R288Splc

c.864-191T>C

Surrounding Variants

1 paper

NM_004941.3

p.R301W

c.901C>T

1 paper

NM_004941.3

p.D311A

c.932A>C

1 paper

NM_004941.3

p.G316D

c.947G>A

1 paper

NM_004941.3

p.R318K

c.953G>A

1 paper

NM_004941.3

p.P262P

c.786C>A

1 paper

NM_004941.3

p.L324L

c.972G>A

1 paper

NM_004941.3

p.P258S

c.772C>T

1 paper

NM_004941.3

p.G328R

c.982G>A

1 paper

NM_004941.3

p.G328R

c.982G>C

1 paper

NM_004941.3

p.R256H

c.767G>A

2 papers

NM_004941.3

p.S332N

c.995G>A

1 paper

NM_004941.3

p.D247N

c.739G>A