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.I583N

c.1748T>A

Surrounding Variants

1 paper

NM_004941.3

p.I583V

c.1747A>G

2 papers

NM_004941.3

p.E604A

c.1811A>C

1 paper

NM_004941.3

p.T616A

c.1846A>G

2 papers

NM_004941.3

p.A623P

c.1867G>C

2 papers

NM_004941.3

p.A623D

c.1868C>A

1 paper

NM_004941.3

p.R647G

c.1939C>G

2 papers

NM_004941.3

p.M661K

c.1982T>A

1 paper

NM_004941.3

p.T691K

c.2072C>A

2 papers

NM_004941.3

p.S717A

c.2149T>G

1 paper

NM_004941.3

p.I737N

c.2210T>A

1 paper

NM_004941.3

p.G739A

c.2216G>C

1 paper

NM_004941.3

p.H768R

c.2303A>G