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

8 papers

NM_004260.4

p.R522C

c.1564C>T

Surrounding Variants

6 papers

NM_004260.4

p.R522H

c.1565G>A

1 paper

NM_004260.4

p.R521W

c.1561C>T

2 papers

NM_004260.4

p.S523fs

c.1567_1568fs

1 paper

NM_004260.4

p.S523R

c.1567A>C

11 papers

NM_004260.4

p.S523T

c.1568G>C

1 paper

NM_004260.4

p.S520R

c.1560C>A

1 paper

NM_004260.4

p.S523R

c.1569C>G

3 papers

NM_004260.4

p.S523fs

c.1567_1568fs

1 paper

NM_004260.4

p.S523R

c.1569C>A

2 papers

NM_004260.4

p.S523delFs

c.1568delC

3 papers

NM_004260.4

p.P524S

c.1570C>T

1 paper

NM_004260.4

p.Y519fs

c.1555_1556fs