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

2 papers

NM_004260.4

p.Q166*

c.496C>T

Surrounding Variants

1 paper

NM_004260.4

p.P165L

c.494C>T

1 paper

NM_004260.4

p.E164delFs

c.492delC

1 paper

NM_004260.4

p.E164fs

c.490_491fs

1 paper

NM_004260.4

p.P169S

c.505C>T

1 paper

NM_004260.4

p.Q161L

c.482A>T

1 paper

NM_004260.4

p.R171Q

c.512G>A

1 paper

NM_004260.4

p.Q166_G170del5

c.496_509del15

1 paper

NM_004260.4

p.L172F

c.514C>T

4 papers

NM_004260.4

p.Q173*

c.517C>T

1 paper

NM_004260.4

p.P159T

c.475C>A

1 paper

NM_004260.4

p.H174Y

c.520C>T

1 paper

NM_004260.4

p.H174R

c.521A>G