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.Q474R

c.1421A>G

Surrounding Variants

1 paper

NM_001286496.2

p.R439W

c.1315C>T

2 papers

NM_001286496.2

p.T423M

c.1268C>T

1 paper

NM_001286496.2

p.V481E

c.1442T>A

1 paper

NM_001286496.2

p.K485E

c.1453A>G

1 paper

NM_001286496.2

p.R491Q

c.1472G>A

1 paper

NM_001286496.2

p.R498*

c.1492C>T

1 paper

NM_001286496.2

p.R498Q

c.1493G>A

1 paper

NM_001286496.2

p.A533T

c.1597G>A

1 paper

NM_001286496.2

p.G536S

c.1606G>A

1 paper

NM_001286496.2

p.Q537*

c.1609C>T

1 paper

NM_001286496.2

p.A549A

c.1647C>T

1 paper

NM_001286496.2

p.A393D

c.1178C>A