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

2 papers

NM_001286496.2

p.S223T

c.668G>C

Surrounding Variants

1 paper

NM_001286496.2

p.A212S

c.634G>T

1 paper

NM_001286496.2

p.V195A

c.584T>C

1 paper

NM_001286496.2

p.K234M

c.701A>T

1 paper

NM_001286496.2

p.L237L

c.711G>A

1 paper

NM_001286496.2

p.V258L

c.772G>T

1 paper

NM_001286496.2

p.V258L

c.772G>C

1 paper

NM_001286496.2

p.V258A

c.773T>C

3 papers

NM_001286496.2

p.A260P

c.778G>C

1 paper

NM_001286496.2

p.L281V

c.841C>G

1 paper

NM_001286496.2

p.A282D

c.845C>A

2 papers

NM_001286496.2

p.C284R

c.850T>C

1 paper

NM_001286496.2

p.P291A

c.871C>G