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.R1021P

c.3062G>C

Surrounding Variants

15 papers

NM_004260.4

p.R1021Q

c.3062G>A

17 papers

NM_004260.4

p.R1021W

c.3061C>T

1 paper

NM_004260.4

p.R1022C

c.3064C>T

1 paper

NM_004260.4

p.R1022H

c.3065G>A

3 papers

NM_004260.4

p.V1020M

c.3058G>A

1 paper

NM_004260.4

p.G1019Splc

c.3056-1G>A

3 papers

NM_004260.4

p.G1019Splc

c.3056-2A>C

1 paper

NM_004260.4

p.G1019Splc

c.3056-3C>A

2 papers

NM_004260.4

p.T1024fs

c.3070_3071fs

5 papers

NM_004260.4

p.T1024delFs

c.3072delT

1 paper

NM_004260.4

p.G1025A

c.3074G>C

8 papers

NM_004260.4

p.T1024_G1025delFs

c.3072_3073delCT