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

Selected Variant

1 paper

NM_017631.6

p.D340E

c.1020C>A

Surrounding Variants

1 paper

NM_017631.6

p.D340E

c.1020C>G

1 paper

NM_017631.6

p.C329S

c.986G>C

1 paper

NM_017631.6

p.C329S

c.985T>A

1 paper

NM_017631.6

p.Q326E

c.976C>G

1 paper

NM_017631.6

p.V317F

c.949G>T

1 paper

NM_017631.6

p.L308L

c.924G>A

1 paper

NM_017631.6

p.L302R

c.905T>G

1 paper

NM_017631.6

p.Q294_V295Splc

c.883-54A>G

1 paper

NM_017631.6

p.Q294_V295Splc

c.882+197T>C

1 paper

NM_017631.6

p.Q294H

c.882G>T

1 paper

NM_017631.6

p.Q294H

c.882G>C

1 paper

NM_017631.6

p.E283K

c.847G>A