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.V767G

c.2300T>G

Surrounding Variants

2 papers

NM_004260.4

p.V767delFs

c.2299delC

2 papers

NM_004260.4

p.V767L

c.2299G>T

1 paper

NM_004260.4

p.V767fs

c.2299_2300fs

2 papers

NM_004260.4

p.V767L

c.2299G>C

2 papers

NM_004260.4

p.V767delFs

c.2300delA

2 papers

NM_004260.4

p.V767fs

c.2299_2300fs

4 papers

NM_004260.4

p.R766fs

c.2296_2297fs

3 papers

NM_004260.4

p.R766Q

c.2297G>A

5 papers

NM_004260.4

p.R766delFs

c.2296delG

1 paper

NM_004260.4

p.Q764_L765del2

c.2290_2294del6

1 paper

NM_004260.4

p.R766W

c.2296C>T

4 papers

NM_004260.4

p.R766G

c.2296C>G