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

Selected Variant

1 paper

NM_018180.3

p.Q252R

c.755A>G

Surrounding Variants

1 paper

NM_018180.3

p.R261C

c.781C>T

1 paper

NM_018180.3

p.L262F

c.784C>T

2 papers

NM_018180.3

p.I266M

c.798T>G

1 paper

NM_018180.3

p.K238E

c.712A>G

1 paper

NM_018180.3

p.S269L

c.806C>T

1 paper

NM_018180.3

p.V232M

c.694G>A

2 papers

NM_018180.3

p.Y228C

c.683A>G

1 paper

NM_018180.3

p.L221L

c.661C>T

1 paper

NM_018180.3

p.Q283_D284Splc

c.849+2T>C

2 papers

NM_018180.3

p.P209R

c.626C>G

1 paper

NM_018180.3

p.E189*

c.565G>T

1 paper

NM_018180.3

p.T162I

c.485C>T