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.V957A

c.2870T>C

Surrounding Variants

1 paper

NM_001012967.3

p.D965N

c.2893G>A

1 paper

NM_001012967.3

p.P985L

c.2954C>T

2 papers

NM_001012967.3

p.Y917H

c.2749T>C

1 paper

NM_001012967.3

p.R891Q

c.2672G>A

1 paper

NM_001012967.3

p.L851F

c.2553G>T

1 paper

NM_001012967.3

p.L851F

c.2553G>C

1 paper

NM_001012967.3

p.F847F

c.2541T>C

4 papers

NM_001012967.3

p.C831R

c.2491T>C

2 papers

NM_001012967.3

p.F826V

c.2476T>G

1 paper

NM_001012967.3

p.T821I

c.2462C>T

1 paper

NM_001012967.3

p.Q803*

c.2407C>T

1 paper

NM_001012967.3

p.G789R

c.2365G>C