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

1–12 of 119 variants

5 papers

NM_001012967.3

p.C336Y

c.1007G>A

4 papers

NM_001012967.3

p.V409L

c.1225G>C

4 papers

NM_001012967.3

p.V754A

c.2261T>C

4 papers

NM_001012967.3

p.C831R

c.2491T>C

4 papers

NM_001012967.3

p.N1488D

c.4462A>G

4 papers

NM_001012967.3

p.M1646V

c.4936A>G

3 papers

NM_001012967.3

p.L1076V

c.3226C>G

3 papers

NM_001012967.3

p.E1222D

c.3666G>T

3 papers

NM_001012967.3

p.E1222D

c.3666G>C

2 papers

NM_001012967.3

p.F826V

c.2476T>G

2 papers

NM_001012967.3

p.Y917H

c.2749T>C

2 papers

NM_001012967.3

p.S1080C

c.3238A>T