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.T378T

c.1134A>G

Surrounding Variants

1 paper

NM_181808.4

p.S376S

c.1128C>A

1 paper

NM_181808.4

p.D367Y

c.1099G>T

1 paper

NM_181808.4

p.I351T

c.1052T>C

1 paper

NM_181808.4

p.Q395H

c.1185G>T

1 paper

NM_181808.4

p.Q395H

c.1185G>C

1 paper

NM_181808.4

p.R398L

c.1193G>T

1 paper

NM_181808.4

p.E399*

c.1195G>T

1 paper

NM_181808.4

p.R398insFs

c.1194dupT

1 paper

NM_181808.4

p.E399fs

c.1195_1196fs

3 papers

NM_181808.4

p.T408K

c.1223C>A

4 papers

NM_181808.4

p.R425C

c.1273C>T

1 paper

NM_181808.4

p.I432M

c.1296A>G