Varaico: Literature-Extracted Genetic Variants

DDX10

120 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 93–263UCSCDEAD/DEAH box helicase

Helicase_Caa 299–410UCSCHelicase conserved C-terminal domain

CTE_SPB4aa 461–510UCSCATP-dependent rRNA helicase SPB4-like, C-terminal extension

Gene Aliases

HGNC Name

DEAD-box helicase 10

HGNC Alias Symbols

HRH-J8; Dbp4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004398.4

p.T284P

c.850A>C

Surrounding Variants

1 paper

NM_004398.4

p.V294I

c.880G>A

1 paper

NM_004398.4

p.V294F

c.880G>T

1 paper

NM_004398.4

p.Q298*

c.892C>T

1 paper

NM_004398.4

p.F319_F320delFs

c.955_959del5

1 paper

NM_004398.4

p.F319fs

c.955_956fs

1 paper

NM_004398.4

p.E325*

c.973G>T

1 paper

NM_004398.4

p.R331Q

c.992G>A

1 paper

NM_004398.4

p.R335Fs

c.1003delinsGAFs

1 paper

NM_004398.4

p.R335W

c.1003C>T

1 paper

NM_004398.4

p.P338R

c.1013C>G

1 paper

NM_004398.4

p.Q350*

c.1048C>T

1 paper

NM_004398.4

p.Y358F

c.1073A>T