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.A517V

c.1550C>T

Surrounding Variants

1 paper

NM_181808.4

p.V518_L519Splc

c.1554+6G>C

1 paper

NM_181808.4

p.T506T

c.1518G>A

2 papers

NM_181808.4

p.S502G

c.1504A>G

1 paper

NM_181808.4

p.R485L

c.1454G>T

1 paper

NM_181808.4

p.T479M

c.1436C>T

1 paper

NM_181808.4

p.A472T

c.1414G>A

1 paper

NM_181808.4

p.E467Q

c.1399G>C

1 paper

NM_181808.4

p.R460C

c.1378C>T

1 paper

NM_181808.4

p.G458_A459Splc

c.1375-2A>G

1 paper

NM_181808.4

p.G458_A459Splc

c.1374+19T>C

1 paper

NM_181808.4

p.H441H

c.1323T>C

1 paper

NM_181808.4

p.V437Splc

c.1310-73G>A