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

3 papers

NM_001012967.3

p.L1076V

c.3226C>G

Surrounding Variants

1 paper

NM_001012967.3

p.L1076P

c.3227T>C

2 papers

NM_001012967.3

p.S1080C

c.3238A>T

1 paper

NM_001012967.3

p.S1085delFs

c.3255delA

1 paper

NM_001012967.3

p.L1096V

c.3286C>G

1 paper

NM_001012967.3

p.K1071K

c.3213G>A

1 paper

NM_001012967.3

p.G1067S

c.3199G>A

1 paper

NM_001012967.3

p.K1051*

c.3151A>T

1 paper

NM_001012967.3

p.K1041K

c.3123G>A

1 paper

NM_001012967.3

p.L1113F

c.3339G>T

1 paper

NM_001012967.3

p.L1113F

c.3339G>C

1 paper

NM_001012967.3

p.R1122G

c.3364A>G

1 paper

NM_001012967.3

p.D1151E

c.3453T>G