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

3 papers

NM_001286496.2

p.T169I

c.506C>T

Surrounding Variants

1 paper

NM_001286496.2

p.T170M

c.509C>T

1 paper

NM_001286496.2

p.A180V

c.539C>T

3 papers

NM_001286496.2

p.E156V

c.467A>T

1 paper

NM_001286496.2

p.A137V

c.410C>T

1 paper

NM_001286496.2

p.S134F

c.401C>T

1 paper

NM_001286496.2

p.L120*

c.359T>A

1 paper

NM_001286496.2

p.P109L

c.326C>T

5 papers

NM_001286496.2

p.P109S

c.325C>T

1 paper

NM_001286496.2

p.G99G

c.297C>G

1 paper

NM_001286496.2

p.P91P

c.273C>T

1 paper

NM_001286496.2

p.A73_L76delFs

c.219_228del10

1 paper

NM_001286496.2

p.L76L

c.228C>T