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.Q107delFs

c.320delT

Surrounding Variants

1 paper

NM_004260.4

p.R108W

c.322C>T

1 paper

NM_004260.4

p.R108Q

c.323G>A

1 paper

NM_004260.4

p.Q107fs

c.319_320fs

1 paper

NM_004260.4

p.Q107*

c.319C>T

2 papers

NM_004260.4

p.G106delFs

c.318delC

1 paper

NM_004260.4

p.L109F

c.325C>T

1 paper

NM_004260.4

p.Y105Y

c.315C>T

2 papers

NM_004260.4

p.Y105*

c.315C>G

2 papers

NM_004260.4

p.Y105*

c.315C>A

1 paper

NM_004260.4

p.P103_D104delFs

c.307_311del5

1 paper

NM_004260.4

p.K110insFs

c.329dupA

1 paper

NM_004260.4

p.P103delFs

c.308_309delCG