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

1 paper

NM_138615.3

p.T831S

c.2491A>T

Surrounding Variants

1 paper

NM_138615.3

p.A823E

c.2468C>A

1 paper

NM_138615.3

p.R813C

c.2437C>T

1 paper

NM_138615.3

p.A832V

c.2495C>T

1 paper

NM_138615.3

p.R797*

c.2389C>T

1 paper

NM_138615.3

p.P796L

c.2387C>T

4 papers

NM_138615.3

p.R785H

c.2354G>A

7 papers

NM_138615.3

p.R785C

c.2353C>T

1 paper

NM_138615.3

p.A851D

c.2552C>A

4 papers

NM_138615.3

p.R782Q

c.2345G>A

13 papers

NM_138615.3

p.R782W

c.2344C>T

4 papers

NM_138615.3

p.G781D

c.2342G>A

1 paper

NM_138615.3

p.I858M

c.2574C>G