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.E1222D

c.3666G>C

Surrounding Variants

3 papers

NM_001012967.3

p.E1222D

c.3666G>T

2 papers

NM_001012967.3

p.R1223S

c.3669G>T

1 paper

NM_001012967.3

p.H1233Q

c.3699C>G

1 paper

NM_001012967.3

p.H1233Q

c.3699C>A

1 paper

NM_001012967.3

p.M1252T

c.3755T>C

1 paper

NM_001012967.3

p.V1260L

c.3778G>C

1 paper

NM_001012967.3

p.K1171K

c.3513G>A

1 paper

NM_001012967.3

p.K1170K

c.3510G>A

1 paper

NM_001012967.3

p.L1278P

c.3833T>C

1 paper

NM_001012967.3

p.G1281V

c.3842G>T

1 paper

NM_001012967.3

p.A1292S

c.3874G>T

1 paper

NM_001012967.3

p.R1304I

c.3911G>T