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.P978insFs

c.2933dupC

Surrounding Variants

1 paper

NM_004260.4

p.P978insFs

c.2934dupA

1 paper

NM_004260.4

p.E976*

c.2926G>T

1 paper

NM_004260.4

p.E976K

c.2926G>A

1 paper

NM_004260.4

p.P975delFs

c.2923delG

1 paper

NM_004260.4

p.P975R

c.2924C>G

1 paper

NM_004260.4

p.L974V

c.2920C>G

1 paper

NM_004260.4

p.Q973E

c.2917C>G

1 paper

NM_004260.4

p.S984S

c.2952C>T

3 papers

NM_004260.4

p.V985M

c.2953G>A

1 paper

NM_004260.4

p.F987_D988insAA

c.2959_2963ins6

1 paper

NM_004260.4

p.S984_E986delFs

c.2952_2958del7

1 paper

NM_004260.4

p.D988_M989insA

c.2962_2966ins3