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.R182insFs

c.545_546insAC

Surrounding Variants

1 paper

NM_004260.4

p.R182W

c.544C>T

1 paper

NM_004260.4

p.Q181Q

c.543G>A

1 paper

NM_004260.4

p.L183delFs

c.547delG

1 paper

NM_004260.4

p.R171_R182del12

c.511_545del36

2 papers

NM_004260.4

p.G184D

c.551G>A

1 paper

NM_004260.4

p.S180N

c.539G>A

1 paper

NM_004260.4

p.S185F

c.554C>T

1 paper

NM_004260.4

p.A177delFs

c.531delT

1 paper

NM_004260.4

p.A177T

c.529G>A

1 paper

NM_004260.4

p.R171_Q176del6

c.511_527del18

1 paper

NM_004260.4

p.P188S

c.562C>T

1 paper

NM_004260.4

p.P188delFs

c.563delG