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.R84delFs

c.252delC

Surrounding Variants

1 paper

NM_004260.4

p.A85V

c.254C>T

1 paper

NM_004260.4

p.N83_A85delFs

c.247_253del7

1 paper

NM_004260.4

p.A86V

c.257C>T

1 paper

NM_004260.4

p.A86insFs

c.258dupG

1 paper

NM_004260.4

p.L82insFs

c.244_245dupCT

1 paper

NM_004260.4

p.T87delFs

c.260delG

1 paper

NM_004260.4

p.K88N

c.264G>T

1 paper

NM_004260.4

p.K88N

c.264G>C

2 papers

NM_004260.4

p.H81fs

c.241_242fs

1 paper

NM_004260.4

p.H81delFs

c.241delG

1 paper

NM_004260.4

p.H81Y

c.241C>T

1 paper

NM_004260.4

p.R76_P80del0

c.228_239del12