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

2 papers

NM_181808.4

p.V821I

c.2461G>A

Surrounding Variants

1 paper

NM_181808.4

p.R823T

c.2468G>C

1 paper

NM_181808.4

p.Q837K

c.2509C>A

7 papers

NM_181808.4

p.Q837delFs

c.2509delG

5 papers

NM_181808.4

p.Q837fs

c.2509_2510fs

1 paper

NM_181808.4

p.Q839_V840Splc

c.2518-19C>T

2 papers

NM_181808.4

p.H854H

c.2562C>T

1 paper

NM_181808.4

p.P868P

c.2604A>G

1 paper

NM_181808.4

p.P881fs

c.2641_2642fs

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.S883fs

c.2647_2648fs

1 paper

NM_181808.4

p.S883fs

c.2647_2648fs