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.N1488D

c.4462A>G

Surrounding Variants

1 paper

NM_001012967.3

p.K1495_V1496Splc

c.4485+1G>A

1 paper

NM_001012967.3

p.D1462delFs

c.4384delC

1 paper

NM_001012967.3

p.Q1461delFs

c.4381delG

1 paper

NM_001012967.3

p.G1455Splc

c.4364-1G>A

1 paper

NM_001012967.3

p.H1429H

c.4287T>C

1 paper

NM_001012967.3

p.K1417N

c.4251G>T

1 paper

NM_001012967.3

p.K1417N

c.4251G>C

1 paper

NM_001012967.3

p.G1414G

c.4242T>C

1 paper

NM_001012967.3

p.A1499V

c.4496C>T

1 paper

NM_001012967.3

p.A1507P

c.4519G>C

1 paper

NM_001012967.3

p.K1549E

c.4645A>G

1 paper

NM_001012967.3

p.M1561R

c.4682T>G