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.E823fs

c.2467_2468fs

Surrounding Variants

2 papers

NM_004260.4

p.E823K

c.2467G>A

1 paper

NM_004260.4

p.G822D

c.2465G>A

1 paper

NM_004260.4

p.G822_E823delFs

c.2464_2468del5

15 papers

NM_004260.4

p.Q821_G822Splc

c.2464-1G>C

2 papers

NM_004260.4

p.Q821_G822Splc

c.2464-1G>A

2 papers

NM_004260.4

p.L825V

c.2473C>G

8 papers

NM_004260.4

p.R826*

c.2476C>T

1 paper

NM_004260.4

p.Q821_G822Splc

c.2464-6C>G

1 paper

NM_004260.4

p.R826Q

c.2477G>A

1 paper

NM_004260.4

p.E827delFs

c.2479delC

1 paper

NM_004260.4

p.L828L

c.2484G>A

1 paper

NM_004260.4

p.R829H

c.2486G>A