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.Q884*

c.2650C>T

Surrounding Variants

1 paper

NM_004260.4

p.E883Q

c.2647G>C

1 paper

NM_004260.4

p.L885P

c.2654T>C

1 paper

NM_004260.4

p.A882T

c.2644G>A

1 paper

NM_004260.4

p.P879_Q880del2

c.2635_2639del6

6 papers

NM_004260.4

p.Q888*

c.2662C>T

1 paper

NM_004260.4

p.K876_P879del4

c.2626_2636del12

1 paper

NM_004260.4

p.Q880fs

c.2638_2639fs

4 papers

NM_004260.4

p.P879insFs

c.2636dupC

1 paper

NM_004260.4

p.P879delFs

c.2636delG

7 papers

NM_004260.4

p.P879H

c.2636C>A

1 paper

NM_004260.4

p.A889V

c.2666C>T

2 papers

NM_004260.4

p.Y877*

c.2631C>G