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.S97_R98delFs

c.290_293del4

Surrounding Variants

1 paper

NM_004260.4

p.R98_Q99delFs

c.294_297del4

1 paper

NM_004260.4

p.R96_G100insFs

c.287_300dup14

1 paper

NM_004260.4

p.R96W

c.286C>T

2 papers

NM_004260.4

p.G95G

c.285G>A

1 paper

NM_004260.4

p.V102A

c.305T>C

1 paper

NM_004260.4

p.G95R

c.283G>C

1 paper

NM_004260.4

p.G95R

c.283G>A

1 paper

NM_004260.4

p.P94delFs

c.281_282delTG

10 papers

NM_004260.4

p.P103L

c.308C>T

2 papers

NM_004260.4

p.P94T

c.280C>A

1 paper

NM_004260.4

p.P103_D104insFs

c.309_310insCT

1 paper

NM_004260.4

p.P103P

c.309G>A