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.L620P

c.1859T>C

Surrounding Variants

2 papers

NM_001286496.2

p.R615Q

c.1844G>A

1 paper

NM_001286496.2

p.A600S

c.1798G>T

1 paper

NM_001286496.2

p.L594L

c.1782G>T

1 paper

NM_001286496.2

p.R592H

c.1775G>A

2 papers

NM_001286496.2

p.R592C

c.1774C>T

1 paper

NM_001286496.2

p.A585fs

c.1753_1754fs

1 paper

NM_001286496.2

p.E623*

c.1867G>T

1 paper

NM_001286496.2

p.A630S

c.1888G>T

1 paper

NM_001286497.2

p.G626delFs

c.1878delC

1 paper

NM_001286496.2

p.A549A

c.1647C>T

1 paper

NM_001286496.2

p.Q537*

c.1609C>T

1 paper

NM_001286496.2

p.G536S

c.1606G>A