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.F760fs

c.2278_2279fs

Surrounding Variants

1 paper

NM_004260.4

p.A759insFs

c.2277dupC

1 paper

NM_004260.4

p.R758Q

c.2273G>A

12 papers

NM_004260.4

p.R758*

c.2272C>T

1 paper

NM_004260.4

p.Q762*

c.2284C>T

1 paper

NM_004260.4

p.R758R

c.2272C>A

1 paper

NM_004260.4

p.Q757fs

c.2269_2270fs

33 papers

NM_004260.4

p.Q757*

c.2269C>T

1 paper

NM_004260.4

p.G763D

c.2288G>A

1 paper

NM_004260.4

p.V756V

c.2268A>G

2 papers

NM_004260.4

p.Q764*

c.2290C>T

8 papers

NM_004260.4

p.R755Q

c.2264G>A

2 papers

NM_004260.4

p.R755W

c.2263C>T