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

1–12 of 86 variants

5 papers

NM_001286496.2

p.E49*

c.145G>T

5 papers

NM_001286496.2

p.P109S

c.325C>T

3 papers

NM_001286496.2

p.E156V

c.467A>T

3 papers

NM_001286496.2

p.T169I

c.506C>T

3 papers

NM_001286496.2

p.A260P

c.778G>C

2 papers

NM_001286496.2

p.S223T

c.668G>C

2 papers

NM_001286496.2

p.C284R

c.850T>C

2 papers

NM_001286496.2

p.E307Q

c.919G>C

2 papers

NM_001286496.2

p.L319P

c.956T>C

2 papers

NM_001286496.2

p.T423M

c.1268C>T

2 papers

NM_001286496.2

p.R592C

c.1774C>T

2 papers

NM_001286496.2

p.R615Q

c.1844G>A