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

3 papers

NM_004260.4

p.A239V

c.716C>T

Surrounding Variants

1 paper

NM_004260.4

p.P237_A239del3

c.709_716del9

1 paper

NM_004260.4

p.L228_A239del12

c.682_716del36

1 paper

NM_004260.4

p.E238_A239insFs

c.714_715ins7

1 paper

NM_004260.4

p.P237delFs

c.711delT

1 paper

NM_004260.4

p.S234_A239del6

c.700_716del18

2 papers

NM_004260.4

p.P237S

c.709C>T

1 paper

NM_004260.4

p.A241_F242insFs

c.721_724dup4

1 paper

NM_004260.4

p.G236C

c.706G>T

1 paper

NM_004260.4

p.A232_Q235delFs

c.696_705del10

3 papers

NM_004260.4

p.Q243*

c.727C>T

1 paper

NM_004260.4

p.E244K

c.730G>A

1 paper

NM_004260.4

p.E244V

c.731A>T