Varaico: Literature-Extracted Genetic Variants

DHX37

147 papers

RefSeq Summary

This gene encodes a DEAD box protein. 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 ...

Pfam Domains

DEADaa 256–418UCSCDEAD/DEAH box helicase

Helicase_Caa 582–676UCSCHelicase conserved C-terminal domain

WHD_HA2aa 737–780UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 781–858UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 925–1011UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

DHX37_Caa 1076–1155UCSCDEAH helicase DHX37 C-terminal domain

Gene Aliases

HGNC Name

DEAH-box helicase 37

HGNC Previous Symbol

DDX37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032656.4

p.V271I

c.811G>A

Surrounding Variants

3 papers

NM_032656.4

p.E267K

c.799G>A

1 paper

NM_032656.4

p.T282A

c.844A>G

4 papers

NM_032656.4

p.I254V

c.760A>G

1 paper

NM_032656.4

p.L250L

c.748C>T

1 paper

NM_032656.4

p.G293S

c.877G>A

1 paper

NM_032656.4

p.Q246_E247Splc

c.739-83T>C

1 paper

NM_032656.4

p.S296Splc

c.888-835C>T

1 paper

NM_032656.4

p.I301I

c.903C>T

3 papers

NM_032656.4

p.G302S

c.904G>A

1 paper

NM_032656.4

p.G302A

c.905G>C

1 paper

NM_032656.4

p.G302D

c.905G>A

6 papers

NM_032656.4

p.T304M

c.911C>T