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.F1030fs

c.3088_3089fs

Surrounding Variants

2 papers

NM_004260.4

p.F1030_S1031delFs

c.3090_3091delTG

1 paper

NM_004260.4

p.E1032K

c.3094G>A

1 paper

NM_004260.4

p.E1029K

c.3085G>A

1 paper

NM_004260.4

p.E1032E

c.3096G>A

2 papers

NM_004260.4

p.R1021_L1027ins2

c.3062_3079dup18

1 paper

NM_004260.4

p.L1027ins6

c.3079_3080ins18

1 paper

NM_004260.4

p.A1034D

c.3101C>A

1 paper

NM_004260.4

p.V1026fs

c.3076_3077fs

1 paper

NM_004260.4

p.F1035insFs

c.3104_3105insA

4 papers

NM_004260.4

p.V1026fs

c.3076_3077fs

1 paper

NM_004260.4

p.F1035_H1036insFs

c.3105_3106insA

1 paper

NM_004260.4

p.G1025A

c.3074G>C