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.E726delFs

c.2176delC

Surrounding Variants

1 paper

NM_018180.3

p.E726fs

c.2176_2177fs

1 paper

NM_018180.3

p.E726fs

c.2176_2177fs

1 paper

NM_018180.3

p.Q728fs

c.2182_2183fs

1 paper

NM_018180.3

p.C730fs

c.2188_2189fs

1 paper

NM_018180.3

p.E731K

c.2191G>A

1 paper

NM_018180.3

p.T732fs

c.2194_2195fs

1 paper

NM_018180.3

p.D715N

c.2143G>A

1 paper

NM_018180.3

p.E687K

c.2059G>A

1 paper

NM_018180.3

p.F670L

c.2010C>G

1 paper

NM_018180.3

p.F670L

c.2010C>A

1 paper

NM_018180.3

p.F670L

c.2008T>C

1 paper

NM_018180.3

p.L666L

c.1998C>G