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.V731I

c.2191G>A

Surrounding Variants

1 paper

NM_017631.6

p.R737W

c.2209C>T

1 paper

NM_017631.6

p.R737Q

c.2210G>A

1 paper

NM_017631.6

p.D716Y

c.2146G>T

1 paper

NM_017631.6

p.R749*

c.2245C>T

1 paper

NM_017631.6

p.P755T

c.2263C>A

1 paper

NM_017631.6

p.P757A

c.2269C>G

1 paper

NM_017631.6

p.Y701F

c.2102A>T

1 paper

NM_017631.6

p.Y701C

c.2102A>G

1 paper

NM_017631.6

p.L699F

c.2095C>T

2 papers

NM_017631.6

p.V672M

c.2014G>A

1 paper

NM_017631.6

p.D773N

c.2317G>A

1 paper

NM_017631.6

p.V774delFs

c.2322delA