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.P127delFs

c.379delG

Surrounding Variants

1 paper

NM_004260.4

p.P127P

c.381G>A

1 paper

NM_004260.4

p.P127L

c.380C>T

1 paper

NM_004260.4

p.P129L

c.386C>T

1 paper

NM_004260.4

p.G120_R125delFs

c.359_374del16

1 paper

NM_004260.4

p.L130L

c.388C>T

1 paper

NM_004260.4

p.R125C

c.373C>T

1 paper

NM_004260.4

p.G124G

c.372C>T

1 paper

NM_004260.4

p.G124G

c.372C>G

1 paper

NM_004260.4

p.G131R

c.391G>C

2 papers

NM_004260.4

p.G131R

c.391G>A

4 papers

NM_004260.4

p.G131E

c.392G>A

1 paper

NM_004260.4

p.R132*

c.394A>T