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.S710P

c.2128T>C

Surrounding Variants

1 paper

NM_001012967.3

p.P715S

c.2143C>T

1 paper

NM_001012967.3

p.W747*

c.2240G>A

1 paper

NM_001012967.3

p.W747*

c.2241G>A

4 papers

NM_001012967.3

p.V754A

c.2261T>C

1 paper

NM_001012967.3

p.A761T

c.2281G>A

1 paper

NM_001012967.3

p.A765T

c.2293G>A

1 paper

NM_001012967.3

p.V788D

c.2363T>A

1 paper

NM_001012967.3

p.G789R

c.2365G>C

1 paper

NM_001012967.3

p.G789R

c.2365G>A

1 paper

NM_001012967.3

p.G687D

c.2060G>A

1 paper

NM_001012967.3

p.M657T

c.1970T>C

1 paper

NM_001012967.3

p.S647L

c.1940C>T