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.E433A

c.1298A>C

Surrounding Variants

2 papers

NM_004941.3

p.F416L

c.1248T>A

2 papers

NM_004941.3

p.F416L

c.1248T>G

2 papers

NM_004941.3

p.F416L

c.1246T>C

1 paper

NM_004941.3

p.H372R

c.1115A>G

1 paper

NM_004941.3

p.D368D

c.1104T>C

1 paper

NM_004941.3

p.N359D

c.1075A>G

1 paper

NM_004941.3

p.L346_L354del9

c.1036_1061del27

1 paper

NM_004941.3

p.V465F

c.1393G>T

2 papers

NM_004941.3

p.S332N

c.995G>A

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.L324L

c.972G>A