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.G223C

c.667G>T

Surrounding Variants

2 papers

NM_004260.4

p.I221_P222del2

c.661_665del6

1 paper

NM_004260.4

p.L219_I221del3

c.655_662del9

1 paper

NM_004260.4

p.P222S

c.664C>T

1 paper

NM_004260.4

p.E224fs

c.670_671fs

1 paper

NM_004260.4

p.E224delFs

c.671delT

1 paper

NM_004260.4

p.S225fs

c.673_674fs

1 paper

NM_004260.4

p.L220P

c.659T>C

1 paper

NM_004260.4

p.A226T

c.676G>A

1 paper

NM_004260.4

p.A226G

c.677C>G

1 paper

NM_004260.4

p.Q218_L219delins

c.654_655delinsTT

1 paper

NM_004260.4

p.Q218fs

c.652_653fs

1 paper

NM_004260.4

p.Q218delFs

c.652_653delTG