Varaico: Literature-Extracted Genetic Variants

PIF1

111 papers

RefSeq Summary

This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrid...

Pfam Domains

PH_LRR1aa 15–131UCSCLRR1 pleckstrin homology domain

PIF1aa 206–405UCSCPIF1-like helicase

Pif1_2B_domaa 458–504UCSCDNA helicase Pif1, 2B domain

Gene Aliases

HGNC Name

PIF1 5'-to-3' DNA helicase

HGNC Previous Symbol

C15orf20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001286496.2

p.A9S

c.25G>T

Surrounding Variants

1 paper

NM_001286496.2

p.A7A

c.21G>T

1 paper

NM_001286496.2

p.E6insFs

c.16dupG

1 paper

NM_001286496.2

p.Y12D

c.34T>G

1 paper

NM_001286496.2

p.G4V

c.11G>T

1 paper

NM_001286496.2

p.M1I

c.3G>T

1 paper

NM_001286496.2

p.M1I

c.3G>A

1 paper

NM_001286496.2

p.C19Y

c.56G>A

1 paper

NM_001286496.2

p.V21L

c.61G>T

1 paper

NM_001286496.2

p.V21L

c.61G>C

1 paper

NM_001286496.2

p.A22A

c.66T>A

1 paper

NM_001286496.2

p.G29G

c.87C>T

5 papers

NM_001286496.2

p.E49*

c.145G>T