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.K154R

c.461A>G

Surrounding Variants

1 paper

NM_004260.4

p.V155fs

c.463_464fs

1 paper

NM_004260.4

p.V155fs

c.463_464fs

1 paper

NM_004260.4

p.S156N

c.467G>A

1 paper

NM_004260.4

p.A152V

c.455C>T

1 paper

NM_004260.4

p.S156R

c.468T>G

1 paper

NM_004260.4

p.S156R

c.468T>A

1 paper

NM_004260.4

p.E153_S156delFs

c.457_467del11

1 paper

NM_004260.4

p.A152T

c.454G>A

1 paper

NM_004260.4

p.D157G

c.470A>G

1 paper

NM_004260.4

p.S150fs

c.448_449fs

1 paper

NM_004260.4

p.S150_F151insC

c.448_452ins3

1 paper

NM_004260.4

p.S150T

c.448T>A