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

1–12 of 146 variants

7 papers

NM_004398.4

p.D788del1

c.2362_2363delGAT

4 papers

NM_004398.4

p.V427L

c.1279G>C

4 papers

NM_004398.4

p.V427L

c.1279G>T

4 papers

NM_004398.4

p.G789ins2

c.2365_2366ins6

3 papers

NM_004398.4

p.E544K

c.1630G>A

2 papers

NM_004398.4

p.P44R

c.131C>G

2 papers

NM_004398.4

p.S171*

c.512C>A

2 papers

NM_004398.4

p.S171*

c.512C>G

2 papers

NM_004398.4

p.V260_K261delFs

c.780_781delAA

2 papers

NM_004398.4

p.T284P

c.850A>C

2 papers

NM_004398.4

p.R363H

c.1088G>A

2 papers

NM_004398.4

p.V384M

c.1150G>A