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

7 papers

NM_004260.4

p.C857_T858del0

c.2569_2574del6

Surrounding Variants

2 papers

NM_004260.4

p.C857_T858ins0

c.2569_2574dup6

2 papers

NM_004260.4

p.T858_R859ins2

c.2574_2575ins6

1 paper

NM_004260.4

p.P861S

c.2581C>T

4 papers

NM_004260.4

p.S862L

c.2585C>T

1 paper

NM_004260.4

p.C855W

c.2565C>G

1 paper

NM_004260.4

p.C855Y

c.2564G>A

2 papers

NM_004260.4

p.E863K

c.2587G>A

1 paper

NM_004260.4

p.E863D

c.2589G>T

1 paper

NM_004260.4

p.E863D

c.2589G>C

1 paper

NM_004260.4

p.T854I

c.2561C>T

6 papers

NM_004260.4

p.Q864*

c.2590C>T

1 paper

NM_004260.4

p.A852_C853ins0

c.2554_2559dup6