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

1 paper

NM_004398.4

p.V160A

c.479T>C

Surrounding Variants

1 paper

NM_004398.4

p.K166R

c.497A>G

1 paper

NM_004398.4

p.H168D

c.502C>G

2 papers

NM_004398.4

p.S171*

c.512C>A

2 papers

NM_004398.4

p.S171*

c.512C>G

1 paper

NM_004398.4

p.L134L

c.402G>A

1 paper

NM_004398.4

p.L128L

c.384G>A

1 paper

NM_004398.4

p.E186K

c.556G>A

1 paper

NM_004398.4

p.E186Q

c.556G>C

1 paper

NM_004398.4

p.E186A

c.557A>C

1 paper

NM_004398.4

p.R200Q

c.599G>A

1 paper

NM_004398.4

p.P126Q

c.377C>A

1 paper

NM_004398.4

p.A113S

c.337G>T