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.P891L

c.2672C>T

Surrounding Variants

1 paper

NM_181808.4

p.P891A

c.2671C>G

1 paper

NM_181808.4

p.L892Q

c.2675T>A

1 paper

NM_181808.4

p.S883fs

c.2647_2648fs

1 paper

NM_181808.4

p.C899F

c.2696G>T

1 paper

NM_181808.4

p.S883fs

c.2647_2648fs

2 papers

NM_181808.4

p.P881delFs

c.2643delA

1 paper

NM_181808.4

p.P881del1

c.2641_2642delAGG

1 paper

NM_181808.4

p.P881fs

c.2641_2642fs

1 paper

NM_181808.4

p.P868P

c.2604A>G

2 papers

NM_181808.4

p.H854H

c.2562C>T

1 paper

NM_181808.4

p.Q839_V840Splc

c.2518-19C>T

5 papers

NM_181808.4

p.Q837fs

c.2509_2510fs