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.V476A

c.1427T>C

Surrounding Variants

1 paper

NM_004398.4

p.R477Q

c.1430G>A

1 paper

NM_004398.4

p.D484N

c.1450G>A

2 papers

NM_004398.4

p.R509C

c.1525C>T

1 paper

NM_004398.4

p.E523_L524del0

c.1567_1572del6

1 paper

NM_004398.4

p.D530N

c.1588G>A

3 papers

NM_004398.4

p.E544K

c.1630G>A

2 papers

NM_004398.4

p.L566V

c.1696C>G

1 paper

NM_004398.4

p.G578A

c.1733G>C

1 paper

NM_004398.4

p.E586del1

c.1756_1757delGAA

1 paper

NM_004398.4

p.D587Y

c.1759G>T

1 paper

NM_004398.4

p.E594D

c.1782G>C

1 paper

NM_004398.4

p.E594D

c.1782G>T