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.S217*

c.650C>A

Surrounding Variants

1 paper

NM_004260.4

p.S217*

c.650C>G

1 paper

NM_004260.4

p.Q218E

c.652C>G

1 paper

NM_004260.4

p.E216G

c.647A>G

1 paper

NM_004260.4

p.E216*

c.646G>T

1 paper

NM_004260.4

p.E215delFs

c.644_645delCT

1 paper

NM_004260.4

p.Q218fs

c.652_653fs

1 paper

NM_004260.4

p.Q218delFs

c.652_653delTG

1 paper

NM_004260.4

p.Q218_L219delins

c.654_655delinsTT

1 paper

NM_004260.4

p.E215V

c.644A>T

1 paper

NM_004260.4

p.E215*

c.643G>T

1 paper

NM_004260.4

p.L220P

c.659T>C

1 paper

NM_004260.4

p.L212insFs

c.636dupA