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.P1096L

c.3287C>T

Surrounding Variants

1 paper

NM_138615.3

p.K1081K

c.3243G>A

1 paper

NM_138615.3

p.D1122N

c.3364G>A

1 paper

NM_138615.3

p.S1132L

c.3395C>T

1 paper

NM_138615.3

p.R1133C

c.3397C>T

1 paper

NM_138615.3

p.V1135L

c.3403G>C

1 paper

NM_138615.3

p.V1135L

c.3403G>T

1 paper

NM_138615.3

p.T1050A

c.3148A>G

1 paper

NM_138615.3

p.R1142P

c.3425G>C

2 papers

NM_138615.3

p.A1144T

c.3430G>A

1 paper

NM_138615.3

p.R1151W

c.3451C>T

1 paper

NM_138615.3

p.R1154_S1155delFs

c.3460_3463del4

1 paper

NM_138615.3

p.R1154C

c.3460C>T