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

3 papers

NM_004260.4

p.T527R

c.1580C>G

Surrounding Variants

2 papers

NM_004260.4

p.T527M

c.1580C>T

1 paper

NM_004260.4

p.L526delFs

c.1578delG

1 paper

NM_004260.4

p.L526L

c.1578C>A

1 paper

NM_004260.4

p.L528delFs

c.1583delA

3 papers

NM_004260.4

p.L526F

c.1576C>T

1 paper

NM_004260.4

p.V529F

c.1585G>T

9 papers

NM_004260.4

p.C525fs

c.1573_1574fs

1 paper

NM_004260.4

p.C525*

c.1575C>A

34 papers

NM_004260.4

p.C525delFs

c.1573delA

1 paper

NM_004260.4

p.P524delFs

c.1572delG

4 papers

NM_004260.4

p.S523_C525Fs

c.1568_1573delinsCCCCCFs

12 papers

NM_004260.4

p.C525fs

c.1573_1574fs