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.L828L

c.2484G>A

Surrounding Variants

1 paper

NM_004260.4

p.R829H

c.2486G>A

1 paper

NM_004260.4

p.E827delFs

c.2479delC

1 paper

NM_004260.4

p.R830insFs

c.2488dupA

8 papers

NM_004260.4

p.H831fs

c.2491_2492fs

1 paper

NM_004260.4

p.R826Q

c.2477G>A

1 paper

NM_004260.4

p.H831Y

c.2491C>T

8 papers

NM_004260.4

p.R826*

c.2476C>T

1 paper

NM_004260.4

p.H831fs

c.2491_2492fs

1 paper

NM_004260.4

p.H831delFs

c.2493delA

13 papers

NM_004260.4

p.H831delFs

c.2492_2493delAT

2 papers

NM_004260.4

p.L825V

c.2473C>G

1 paper

NM_004260.4

p.H831_V832delFs

c.2493_2494delCA