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.M1_E2insFs

c.3_4insA

Surrounding Variants

1 paper

NM_004260.4

p.M1I

c.3G>T

1 paper

NM_004260.4

p.M1insFs

c.2dupT

1 paper

NM_004260.4

p.M1I

c.3G>A

18 papers

NM_004260.4

p.M1delFs

c.2delA

1 paper

NM_004260.4

p.M1insFs

c.1_2insAA

1 paper

NM_004260.4

p.M1R

c.2T>G

2 papers

NM_004260.4

p.M1T

c.2T>C

1 paper

NM_004260.4

p.M1L

c.1A>T

1 paper

NM_004260.4

p.M1V

c.1A>G

1 paper

NM_004260.4

p.M1L

c.1A>C

1 paper

NM_004260.4

p.M1insFs

c.1_2insTT

1 paper

NM_004260.4

p.M1ins1

c.1_2insTTT