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.G734Splc

c.2201-2A>T

Surrounding Variants

1 paper

NM_004260.4

p.G734Splc

c.2201-1G>C

1 paper

NM_004260.4

p.G734Splc

c.2201-1G>A

1 paper

NM_004260.4

p.R735H

c.2204G>A

1 paper

NM_004260.4

p.G734Splc

c.2201-8C>T

2 papers

NM_004260.4

p.P737S

c.2209C>T

1 paper

NM_004260.4

p.P737insFs

c.2210_2211insA

2 papers

NM_004260.4

p.A736insFs

c.2207_2208insC

1 paper

NM_004260.4

p.K738K

c.2214A>G

1 paper

NM_004260.4

p.A741T

c.2221G>A

1 paper

NM_004260.4

p.E742K

c.2224G>A

1 paper

NM_004260.4

p.E742D

c.2226G>T

1 paper

NM_004260.4

p.E742D

c.2226G>C