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.Q475K

c.1423C>A

Surrounding Variants

1 paper

NM_004260.4

p.Q475E

c.1423C>G

1 paper

NM_004260.4

p.E468_E474del0

c.1403_1420del18

1 paper

NM_004260.4

p.Q475R

c.1424A>G

1 paper

NM_004260.4

p.L473_E474del1

c.1418_1420delCCA

1 paper

NM_004260.4

p.A467_E474del0

c.1400_1420del21

1 paper

NM_004260.4

p.E474K

c.1420G>A

1 paper

NM_004260.4

p.G477fs

c.1429_1430fs

1 paper

NM_004260.4

p.Q471_A472insFs

c.1413_1414insAC

1 paper

NM_004260.4

p.H478Q

c.1434C>G

1 paper

NM_004260.4

p.H478Q

c.1434C>A

5 papers

NM_004260.4

p.Q471P

c.1412A>C

1 paper

NM_004260.4

p.Q471insFs

c.1412_1413ins16