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

20 papers

NM_004260.4

p.R350delFs

c.1048_1049delCT

Surrounding Variants

4 papers

NM_004260.4

p.R350fs

c.1048_1049fs

2 papers

NM_004260.4

p.R350delFs

c.1048delT

9 papers

NM_004260.4

p.R350fs

c.1048_1049fs

2 papers

NM_004260.4

p.R350G

c.1048A>G

1 paper

NM_004260.4

p.N352S

c.1055A>G

1 paper

NM_004260.4

p.N352insFs

c.1054dupA

2 papers

NM_004260.4

p.H348R

c.1043A>G

5 papers

NM_004260.4

p.R347H

c.1040G>A

1 paper

NM_004260.4

p.V354I

c.1060G>A

4 papers

NM_004260.4

p.R355W

c.1063C>T

1 paper

NM_004260.4

p.A346S

c.1036G>T

6 papers

NM_004260.4

p.R355Q

c.1064G>A