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.Q485K

c.1453C>A

Surrounding Variants

1 paper

NM_004260.4

p.Q485insFs

c.1453dupC

1 paper

NM_004260.4

p.Q485fs

c.1453_1454fs

1 paper

NM_004260.4

p.R487G

c.1459C>G

1 paper

NM_004260.4

p.R482L

c.1445G>T

1 paper

NM_004260.4

p.A488S

c.1462G>T

2 papers

NM_004260.4

p.R482C

c.1444C>T

1 paper

NM_004260.4

p.A488V

c.1463C>T

1 paper

NM_004260.4

p.R487_A488delFs

c.1461_1462delCA

2 papers

NM_004260.4

p.F481C

c.1442T>G

1 paper

NM_004260.4

p.V489insFs

c.1466dupT

1 paper

NM_004260.4

p.Q479*

c.1435C>T

1 paper

NM_004260.4

p.Q479E

c.1435C>G