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.H362Q

c.1086C>A

Surrounding Variants

1 paper

NM_004260.4

p.H362Q

c.1086C>G

1 paper

NM_004260.4

p.K361insFs

c.1082dupA

2 papers

NM_004260.4

p.Y363*

c.1089C>G

2 papers

NM_004260.4

p.Y363*

c.1089C>A

1 paper

NM_004260.4

p.Q360_K361delFs

c.1078_1081del4

1 paper

NM_004260.4

p.K361*

c.1081A>T

1 paper

NM_004260.4

p.R365P

c.1094G>C

2 papers

NM_004260.4

p.R365Q

c.1094G>A

4 papers

NM_004260.4

p.Q360*

c.1078C>T

1 paper

NM_004260.4

p.G366R

c.1096G>C

1 paper

NM_004260.4

p.K359R

c.1076A>G

1 paper

NM_004260.4

p.G366V

c.1097G>T