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.Y319*

c.957C>A

Surrounding Variants

1 paper

NM_004260.4

p.Y319*

c.957C>G

1 paper

NM_004260.4

p.Y319H

c.955T>C

1 paper

NM_004260.4

p.G321*

c.961G>T

1 paper

NM_004260.4

p.R318insFs

c.952dupA

1 paper

NM_004260.4

p.Y319_H320delFs

c.956_960del5

1 paper

NM_004260.4

p.P317T

c.949C>A

1 paper

NM_004260.4

p.N316S

c.947A>G

1 paper

NM_004260.4

p.P324S

c.970C>T

1 paper

NM_004260.4

p.P314L

c.941C>T

2 papers

NM_004260.4

p.P314S

c.940C>T

1 paper

NM_004260.4

p.S313delFs

c.938_939delGC

1 paper

NM_004260.4

p.S313T

c.938G>C