Varaico: Literature-Extracted Genetic Variants

DHX30

98 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

DSRM_2aa 47–123UCSCdsRNA binding domain

DEADaa 437–599UCSCDEAD/DEAH box helicase

Helicase_Caa 652–787UCSCHelicase conserved C-terminal domain

HA2_Caa 880–939UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 1015–1105UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DExH-box helicase 30

HGNC Previous Symbol

DDX30

Papers

RefSeq ID

Protein change

DNA change

1–12 of 113 variants

13 papers

NM_138615.3

p.R782W

c.2344C>T

9 papers

NM_138615.3

p.R493H

c.1478G>A

8 papers

NM_138615.3

p.H562R

c.1685A>G

7 papers

NM_138615.3

p.R785C

c.2353C>T

4 papers

NM_138615.3

p.I557L

c.1669A>C

4 papers

NM_138615.3

p.G781D

c.2342G>A

4 papers

NM_138615.3

p.R782Q

c.2345G>A

4 papers

NM_138615.3

p.R785H

c.2354G>A

2 papers

NM_138615.3

p.G224W

c.670G>T

2 papers

NM_014966.4

p.E604_S605Splc

c.1813-1G>T

2 papers

NM_138615.3

p.R725H

c.2174G>A

2 papers

NM_138615.3

p.A734D

c.2201C>A