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

4 papers

NM_001012967.3

p.V409L

c.1225G>C

Surrounding Variants

1 paper

NM_001012967.3

p.D387N

c.1159G>A

1 paper

NM_001012967.3

p.I369I

c.1107A>T

1 paper

NM_001012967.3

p.S358S

c.1074T>A

1 paper

NM_001012967.3

p.E337K

c.1009G>A

5 papers

NM_001012967.3

p.C336Y

c.1007G>A

1 paper

NM_001012967.3

p.P463S

c.1387C>T

1 paper

NM_001012967.3

p.D469N

c.1405G>A

1 paper

NM_001012967.3

p.E506Splc

c.1516+3G>T