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

15 papers

NM_004260.4

p.E464Splc

c.1391-1G>A

Surrounding Variants

2 papers

NM_004260.4

p.E464Splc

c.1391-2A>C

5 papers

NM_004260.4

p.E464Splc

c.1391-4G>T

1 paper

NM_004260.4

p.E464Splc

c.1391-6C>A

1 paper

NM_004260.4

p.P466T

c.1396C>A

9 papers

NM_004260.4

p.P466L

c.1397C>T

1 paper

NM_004260.4

p.P466R

c.1397C>G

1 paper

NM_004260.4

p.E468K

c.1402G>A

1 paper

NM_004260.4

p.V469L

c.1405G>T

1 paper

NM_004260.4

p.F470S

c.1409T>C

5 papers

NM_004260.4

p.Q471P

c.1412A>C

1 paper

NM_004260.4

p.Q471insFs

c.1412_1413ins16

1 paper

NM_004260.4

p.Q471delFs

c.1411delG