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

3 papers

NM_181808.4

p.P315S

c.943C>T

Surrounding Variants

1 paper

NM_181808.4

p.I317T

c.950T>C

3 papers

NM_181808.4

p.M310L

c.928A>T

3 papers

NM_181808.4

p.M310L

c.928A>C

1 paper

NM_181808.4

p.T309P

c.925A>C

2 papers

NM_181808.4

p.R303Q

c.908G>A

1 paper

NM_181808.4

p.F332fs

c.994_995fs

1 paper

NM_181808.4

p.F332delFs

c.996delA

1 paper

NM_181808.4

p.G333G

c.999C>T

1 paper

NM_181808.4

p.G336C

c.1006G>T

5 papers

NM_181808.4

p.G336S

c.1006G>A

1 paper

NM_181808.4

p.G336D

c.1007G>A

1 paper

NM_181808.4

p.V341Splc

c.1021+4A>G