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.F52_V53insFs

c.156_157insA

Surrounding Variants

1 paper

NM_004941.3

p.E51G

c.152A>G

1 paper

NM_004941.3

p.T62A

c.184A>G

1 paper

NM_004941.3

p.T62S

c.184A>T

1 paper

NM_004941.3

p.T62S

c.185C>G

1 paper

NM_004941.3

p.F63I

c.187T>A

1 paper

NM_004941.3

p.D64E

c.192T>A

1 paper

NM_004941.3

p.F66L

c.198T>A

1 paper

NM_004941.3

p.K72delFs

c.216delA

1 paper

NM_004941.3

p.G74V

c.221G>T

1 paper

NM_004941.3

p.F77Y

c.230T>A

1 paper

NM_004941.3

p.S80A

c.238T>G

1 paper

NM_004941.3

p.S83R

c.249T>A