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

2 papers

NM_004941.3

p.R168W

c.502C>T

Surrounding Variants

1 paper

NM_004941.3

p.H167delins

c.500_501delinsTC

1 paper

NM_004941.3

p.A157T

c.469G>A

1 paper

NM_004941.3

p.A156_A157insA

c.466_470ins3

1 paper

NM_004941.3

p.V143V

c.429G>A

1 paper

NM_004941.3

p.K140insFs

c.419_420ins4

1 paper

NM_004941.3

p.D137E

c.411T>A

1 paper

NM_004941.3

p.K172R

c.515A>G

1 paper

NM_004941.3

p.R176Q

c.527G>A

1 paper

NM_004941.3

p.S177R

c.529A>C

1 paper

NM_004941.3

p.S177R

c.531T>A

1 paper

NM_004941.3

p.S177R

c.531T>G

1 paper

NM_004941.3

p.R184*

c.550C>T