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.Q911*

c.2731C>T

Surrounding Variants

1 paper

NM_004260.4

p.V910L

c.2728G>T

1 paper

NM_004260.4

p.V910L

c.2728G>C

2 papers

NM_004260.4

p.V910I

c.2728G>A

1 paper

NM_004260.4

p.L913F

c.2739G>T

1 paper

NM_004260.4

p.L913F

c.2739G>C

1 paper

NM_004260.4

p.D914Y

c.2740G>T

2 papers

NM_004260.4

p.Q907*

c.2719C>T

2 papers

NM_004260.4

p.P916L

c.2747C>T

2 papers

NM_004260.4

p.P916Q

c.2747C>A

1 paper

NM_004260.4

p.P916delFs

c.2747delG

1 paper

NM_004260.4

p.E917V

c.2750A>T

4 papers

NM_004260.4

p.E918*

c.2752G>T