Varaico: Literature-Extracted Genetic Variants

DDX60

108 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of...

Pfam Domains

PIN-like_DDX60aa 6–230UCSCATP-dependent RNA helicase DDX60, PIN-like domain

TPR_DDX60aa 583–711UCSCDDX60 TPR domain

DEADaa 765–927UCSCDEAD/DEAH box helicase

Helicase_Caa 1225–1330UCSCHelicase conserved C-terminal domain

WHD_DDX60aa 1358–1440UCSCDDX60-like, winged helix domain

Gene Aliases

HGNC Name

DExD/H-box helicase 60

HGNC Alias Symbol

FLJ20035

Papers

RefSeq ID

Protein change

DNA change

1–12 of 136 variants

2 papers

NM_017631.6

p.R120*

c.358C>T

2 papers

NM_017631.6

p.V672M

c.2014G>A

2 papers

NM_017631.6

p.R1028Q

c.3083G>A

1 paper

NM_017631.6

p.F9Y

c.26T>A

1 paper

NM_017631.6

p.M13I

c.39G>A

1 paper

NM_017631.6

p.L16I

c.46T>A

1 paper

NM_017631.6

p.L29S

c.86T>C

1 paper

NM_017631.6

p.V34F

c.100G>T

1 paper

NM_017631.6

p.L40*

c.119T>A

1 paper

NM_017631.6

p.S45S

c.135A>G

1 paper

NM_017631.6

p.S55L

c.164C>T

1 paper

NM_017631.6

p.L100L

c.300T>A