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.F1035insFs

c.3104_3105insA

Surrounding Variants

1 paper

NM_004260.4

p.F1035_H1036insFs

c.3105_3106insA

1 paper

NM_004260.4

p.A1034D

c.3101C>A

1 paper

NM_004260.4

p.E1032E

c.3096G>A

1 paper

NM_004260.4

p.R1038H

c.3113G>A

1 paper

NM_004260.4

p.E1032K

c.3094G>A

2 papers

NM_004260.4

p.F1030_S1031delFs

c.3090_3091delTG

2 papers

NM_004260.4

p.F1030fs

c.3088_3089fs

1 paper

NM_004260.4

p.P1040fs

c.3118_3119fs

1 paper

NM_004260.4

p.P1040P

c.3120G>A

1 paper

NM_004260.4

p.E1029K

c.3085G>A

2 papers

NM_004260.4

p.D1042N

c.3124G>A

1 paper

NM_004260.4

p.P1040_D1042delFs

c.3120_3124del5