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.G203E

c.608G>A

Surrounding Variants

1 paper

NM_004260.4

p.A204P

c.610G>C

2 papers

NM_004260.4

p.A204G

c.611C>G

1 paper

NM_004260.4

p.L202L

c.604C>T

1 paper

NM_004260.4

p.F201L

c.603T>G

1 paper

NM_004260.4

p.F201L

c.603T>A

1 paper

NM_004260.4

p.F201L

c.601T>C

1 paper

NM_004260.4

p.D200delFs

c.599_600delAT

1 paper

NM_004260.4

p.K206*

c.616A>T

1 paper

NM_004260.4

p.K206Q

c.616A>C

1 paper

NM_004260.4

p.P205insFs

c.615dupC

1 paper

NM_004260.4

p.D200N

c.598G>A

1 paper

NM_004260.4

p.K206fs

c.616_617fs