Varaico: Literature-Extracted Genetic Variants

RECQL4

846 papers

RefSeq Summary

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation....

Pfam Domains

Drc1-Sld2aa 4–155UCSCDNA replication and checkpoint protein

DEADaa 125–295UCSCDEAD/DEAH box helicase

Helicase_Caa 326–452UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

RecQ like helicase 4

HGNC Alias Symbol

RecQ4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004260.4

p.A291delFs

c.871delC

Surrounding Variants

1 paper

NM_004260.4

p.A291fs

c.871_872fs

1 paper

NM_004260.4

p.V292insFs

c.874_875ins4

1 paper

NM_004260.4

p.V292I

c.874G>A

1 paper

NM_004260.4

p.G290E

c.869G>A

1 paper

NM_004260.4

p.V292insFs

c.875dupT

1 paper

NM_004260.4

p.A293insFs

c.877dupG

1 paper

NM_004260.4

p.A289delFs

c.865delC

1 paper

NM_004260.4

p.A289fs

c.865_866fs

1 paper

NM_004260.4

p.V292_A293delFs

c.876_879del4

1 paper

NM_004260.4

p.A293_V294delFs

c.879_880delCT

1 paper

NM_004260.4

p.G290_A293del4

c.868_878del12

1 paper

NM_004260.4

p.G288R

c.862G>C