Varaico: Literature-Extracted Genetic Variants

DHX32

62 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

WHD_HA2aa 458–486UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 487–547UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 616–696UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAH-box helicase 32 (putative)

HGNC Previous Symbol

DDX32

Papers

RefSeq ID

Protein change

DNA change

1–12 of 73 variants

2 papers

NM_018180.3

p.V81A

c.242T>C

2 papers

NM_018180.3

p.P209R

c.626C>G

2 papers

NM_018180.3

p.Y228C

c.683A>G

2 papers

NM_018180.3

p.I266M

c.798T>G

2 papers

NM_018180.3

p.R362K

c.1085G>A

2 papers

NM_018180.3

p.A529P

c.1585G>C

1 paper

NM_018180.3

p.L6V

c.16C>G

1 paper

NM_018180.3

p.S12F

c.35C>T

1 paper

NM_018180.3

p.R51C

c.151C>T

1 paper

NM_018180.3

p.K68fs

c.202_203fs

1 paper

NM_018180.3

p.K68delFs

c.204delT

1 paper

NM_018180.3

p.A87T

c.259G>A