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.A333S

c.997G>T

Surrounding Variants

1 paper

NM_138615.3

p.L335fs

c.1003_1004fs

1 paper

NM_138615.3

p.T341I

c.1022C>T

1 paper

NM_138615.3

p.T347_T360del14

c.1039_1079del42

1 paper

NM_138615.3

p.R356H

c.1067G>A

1 paper

NM_138615.3

p.E359Q

c.1075G>C

1 paper

NM_138615.3

p.G387delFs

c.1160delG

1 paper

NM_138615.3

p.R424G

c.1270C>G

1 paper

NM_138615.3

p.P426L

c.1277C>T

1 paper

NM_138615.3

p.H439Q

c.1317T>A

1 paper

NM_138615.3

p.H439Q

c.1317T>G

1 paper

NM_138615.3

p.I447N

c.1340T>A

1 paper

NM_138615.3

p.G460D

c.1379G>A