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.F342S

c.1025T>C

Surrounding Variants

1 paper

NM_004260.4

p.R344Q

c.1031G>A

1 paper

NM_004260.4

p.L339fs

c.1015_1016fs

1 paper

NM_004260.4

p.L339delFs

c.1016delA

1 paper

NM_004260.4

p.L339insFs

c.1015dupC

1 paper

NM_004260.4

p.L339delFs

c.1015delG

1 paper

NM_004260.4

p.L339fs

c.1015_1016fs

1 paper

NM_004260.4

p.A346S

c.1036G>T

5 papers

NM_004260.4

p.R347H

c.1040G>A

1 paper

NM_004260.4

p.G335_T336insFs

c.1005_1006ins32

2 papers

NM_004260.4

p.H348R

c.1043A>G

1 paper

NM_004260.4

p.G335Fs

c.1003delinsGAFs

9 papers

NM_004260.4

p.R350fs

c.1048_1049fs