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

Selected Variant

2 papers

NM_138615.3

p.R725H

c.2174G>A

Surrounding Variants

1 paper

NM_138615.3

p.V724delFs

c.2170delG

1 paper

NM_138615.3

p.P721A

c.2161C>G

2 papers

NM_138615.3

p.A734D

c.2201C>A

1 paper

NM_138615.3

p.T736S

c.2206A>T

1 paper

NM_138615.3

p.T736S

c.2207C>G

2 papers

NM_138615.3

p.S737F

c.2210C>T

1 paper

NM_138615.3

p.T739A

c.2215A>G

1 paper

NM_138615.3

p.K762_V763Splc

c.2287-1G>A

1 paper

NM_138615.3

p.S772*

c.2315C>G

4 papers

NM_138615.3

p.G781D

c.2342G>A

13 papers

NM_138615.3

p.R782W

c.2344C>T

4 papers

NM_138615.3

p.R782Q

c.2345G>A