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.L1007V

c.3019C>G

Surrounding Variants

1 paper

NM_004260.4

p.L1007fs

c.3019_3020fs

1 paper

NM_004260.4

p.A1006V

c.3017C>T

1 paper

NM_004260.4

p.A1006P

c.3016G>C

1 paper

NM_004260.4

p.C1008insFs

c.3022dupT

3 papers

NM_004260.4

p.R1005R

c.3015G>A

1 paper

NM_004260.4

p.C1008Y

c.3023G>A

2 papers

NM_004260.4

p.L1007_C1008delFs

c.3021_3022delAG

23 papers

NM_004260.4

p.R1005Q

c.3014G>A

1 paper

NM_004260.4

p.R1005W

c.3013C>T

1 paper

NM_004260.4

p.Q1009delFs

c.3025delG

1 paper

NM_004260.4

p.R1004Q

c.3011G>A

1 paper

NM_004260.4

p.R1004W

c.3010C>T