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.P254L

c.761C>T

Surrounding Variants

1 paper

NM_004260.4

p.I247_Q253del7

c.739_758del21

3 papers

NM_004260.4

p.Q253H

c.759G>T

3 papers

NM_004260.4

p.Q253H

c.759G>C

1 paper

NM_004260.4

p.P254insFs

c.760dupC

1 paper

NM_004260.4

p.P254delFs

c.760delG

1 paper

NM_004260.4

p.P252del1

c.754_755delGGG

1 paper

NM_004260.4

p.Q253*

c.757C>T

1 paper

NM_004260.4

p.S255delFs

c.765delG

1 paper

NM_004260.4

p.S255delFs

c.764_765delGC

1 paper

NM_004260.4

p.S256I

c.767G>T

5 papers

NM_004260.4

p.P252L

c.755C>T

1 paper

NM_004260.4

p.S251insFs

c.751dupA