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.G79_P80del1

c.237_239delGGC

Surrounding Variants

1 paper

NM_004260.4

p.W78_P80del0

c.234_239del6

1 paper

NM_004260.4

p.H81Y

c.241C>T

1 paper

NM_004260.4

p.R76_P80del0

c.228_239del12

1 paper

NM_004260.4

p.G79delFs

c.236delC

1 paper

NM_004260.4

p.H81delFs

c.241delG

2 papers

NM_004260.4

p.H81fs

c.241_242fs

1 paper

NM_004260.4

p.G79A

c.236G>C

1 paper

NM_004260.4

p.G79E

c.236G>A

1 paper

NM_004260.4

p.L82insFs

c.244_245dupCT

1 paper

NM_004260.4

p.W78_G79ins4

c.232_236ins12

1 paper

NM_004260.4

p.R76R

c.228C>T

2 papers

NM_004260.4

p.R76H

c.227G>A