Varaico: Literature-Extracted Genetic Variants

DDX60L

118 papers

RefSeq Summary

This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprise...

Pfam Domains

PIN-like_DDX60aa 6–230UCSCATP-dependent RNA helicase DDX60, PIN-like domain

TPR_DDX60aa 568–695UCSCDDX60 TPR domain

DEADaa 745–907UCSCDEAD/DEAH box helicase

Helicase_Caa 1204–1314UCSCHelicase conserved C-terminal domain

WHD_DDX60aa 1342–1424UCSCDDX60-like, winged helix domain

Gene Aliases

HGNC Name

DExD/H-box 60 like

HGNC Alias Symbol

FLJ31033

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001012967.3

p.A242V

c.725C>T

Surrounding Variants

1 paper

NM_001012967.3

p.L252L

c.756A>G

1 paper

NM_001012967.3

p.L270P

c.809T>C

1 paper

NM_001012967.3

p.S271S

c.813C>T

1 paper

NM_001012967.3

p.R195*

c.583A>T

1 paper

NM_001012967.3

p.G167Fs

c.500delinsGGFs

1 paper

NM_001012967.3

p.N159K

c.477C>A

1 paper

NM_001012967.3

p.T155T

c.465G>T

1 paper

NM_001012967.3

p.F123L

c.369T>G

1 paper

NM_001012967.3

p.F123L

c.369T>A

1 paper

NM_001012967.3

p.F123L

c.367T>C

1 paper

NM_001012967.3

p.Q120R

c.359A>G

5 papers

NM_001012967.3

p.C336Y

c.1007G>A