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.A273_Q274insFs

c.819_820insT

Surrounding Variants

1 paper

NM_004260.4

p.A273T

c.817G>A

1 paper

NM_004260.4

p.Q274P

c.821A>C

1 paper

NM_004260.4

p.V275I

c.823G>A

1 paper

NM_004260.4

p.Q276fs

c.826_827fs

1 paper

NM_004260.4

p.V275_Q276Fs

c.825_826delinsGFs

1 paper

NM_004260.4

p.E270G

c.809A>G

1 paper

NM_004260.4

p.W269del1

c.805_807delCCA

1 paper

NM_004260.4

p.K261_W269del0

c.783_806del24

4 papers

NM_004260.4

p.W269*

c.807G>A

1 paper

NM_004260.4

p.E278*

c.832G>T

5 papers

NM_004260.4

p.W269*

c.806G>A

1 paper

NM_004260.4

p.W269delFs

c.805delA