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.G899D

c.2696G>A

Surrounding Variants

1 paper

NM_004260.4

p.C897del1

c.2689_2691delGCA

1 paper

NM_004260.4

p.E901delFs

c.2701delC

3 papers

NM_004260.4

p.R902W

c.2704C>T

1 paper

NM_004260.4

p.R902Q

c.2705G>A

1 paper

NM_004260.4

p.P893L

c.2678C>T

2 papers

NM_004260.4

p.Q907*

c.2719C>T

1 paper

NM_004260.4

p.A889V

c.2666C>T

1 paper

NM_004260.4

p.V910L

c.2728G>T

1 paper

NM_004260.4

p.V910L

c.2728G>C

2 papers

NM_004260.4

p.V910I

c.2728G>A

6 papers

NM_004260.4

p.Q888*

c.2662C>T

1 paper

NM_004260.4

p.Q911*

c.2731C>T