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.A393D

c.1178C>A

Surrounding Variants

1 paper

NM_001286496.2

p.L391L

c.1171C>T

1 paper

NM_001286496.2

p.P371S

c.1111C>T

1 paper

NM_001286496.2

p.P357L

c.1070C>T

1 paper

NM_001286496.2

p.Q355L

c.1064A>T

1 paper

NM_001286496.2

p.D343E

c.1029C>G

1 paper

NM_001286496.2

p.D343E

c.1029C>A

1 paper

NM_001286496.2

p.E320*

c.958G>T

2 papers

NM_001286496.2

p.L319P

c.956T>C

1 paper

NM_001286496.2

p.D317E

c.951C>G

1 paper

NM_001286496.2

p.D317E

c.951C>A

1 paper

NM_001286496.2

p.D314E

c.942C>G

1 paper

NM_001286496.2

p.D314E

c.942C>A