Varaico: Literature-Extracted Genetic Variants

POLN

88 papers

RefSeq Summary

This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlappi...

Pfam Domains

DNA_pol_P_Exoaa 198–416UCSCDNA polymerase nu pseudo-exo

DNA_pol_Aaa 447–854UCSCDNA polymerase family A

Gene Aliases

HGNC Name

DNA polymerase nu

HGNC Previous Names

polymerase (DNA directed) nu; polymerase (DNA) nu

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181808.4

p.A622fs

c.1864_1865fs

Surrounding Variants

1 paper

NM_181808.4

p.T618A

c.1852A>G

3 papers

NM_181808.4

p.T604M

c.1811C>T

1 paper

NM_181808.4

p.G597Splc

c.1790-9A>G

1 paper

NM_181808.4

p.S625P

c.1873T>C

2 papers

NM_181808.4

p.R630C

c.1888C>T

1 paper

NM_181808.4

p.Q580*

c.1738C>T