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.P463S

c.1387C>T

Surrounding Variants

1 paper

NM_001012967.3

p.D469N

c.1405G>A

1 paper

NM_001012967.3

p.E506Splc

c.1516+3G>T

1 paper

NM_001012967.3

p.R509T

c.1526G>C

1 paper

NM_001012967.3

p.F516fs

c.1546_1547fs

1 paper

NM_001012967.3

p.S530L

c.1589C>T

1 paper

NM_001012967.3

p.S535F

c.1604C>T

1 paper

NM_001012967.3

p.T536M

c.1607C>T

1 paper

NM_001012967.3

p.R545W

c.1633C>T

1 paper

NM_001012967.3

p.A583T

c.1747G>A

1 paper

NM_001012967.3

p.N586N

c.1758C>T

1 paper

NM_001012967.3

p.E594K

c.1780G>A

1 paper

NM_001012967.3

p.S619L

c.1856C>T