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.V148D

c.443T>A

Surrounding Variants

3 papers

NM_004260.4

p.V148I

c.442G>A

1 paper

NM_004260.4

p.P149L

c.446C>T

1 paper

NM_004260.4

p.P147L

c.440C>T

1 paper

NM_004260.4

p.S150_F151insC

c.448_452ins3

1 paper

NM_004260.4

p.S150T

c.448T>A

1 paper

NM_004260.4

p.P149delFs

c.447delG

1 paper

NM_004260.4

p.S150fs

c.448_449fs

1 paper

NM_004260.4

p.G144insFs

c.431dupG

1 paper

NM_004260.4

p.A152T

c.454G>A

1 paper

NM_004260.4

p.G144D

c.431G>A

1 paper

NM_004260.4

p.A152V

c.455C>T

1 paper

NM_004260.4

p.P143Q

c.428C>A