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

2 papers

NM_004260.4

p.P314S

c.940C>T

Surrounding Variants

1 paper

NM_004260.4

p.S313delFs

c.938_939delGC

1 paper

NM_004260.4

p.P314L

c.941C>T

1 paper

NM_004260.4

p.S313T

c.938G>C

1 paper

NM_004260.4

p.S312G

c.934A>G

1 paper

NM_004260.4

p.P307_C311del5

c.919_932del15

1 paper

NM_004260.4

p.N316S

c.947A>G

1 paper

NM_004260.4

p.P317T

c.949C>A

1 paper

NM_004260.4

p.P308_Q309del2

c.922_926del6

1 paper

NM_004260.4

p.R318insFs

c.952dupA

1 paper

NM_004260.4

p.Y319H

c.955T>C

3 papers

NM_004260.4

p.Q309*

c.925C>T

1 paper

NM_004260.4

p.Q309_P310insCT

c.925_929ins6