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.S737Y

c.2210C>A

Surrounding Variants

1 paper

NM_181808.4

p.V736M

c.2206G>A

1 paper

NM_181808.4

p.C734fs

c.2200_2201fs

3 papers

NM_181808.4

p.P744T

c.2230C>A

1 paper

NM_181808.4

p.R761*

c.2281C>T

2 papers

NM_181808.4

p.G770Splc

c.2308+1G>A

1 paper

NM_181808.4

p.G770Splc

c.2308+60G>A

1 paper

NM_181808.4

p.G770V

c.2309G>T

1 paper

NM_181808.4

p.L775P

c.2324T>C

1 paper

NM_181808.4

p.A789V

c.2366C>T

1 paper

NM_181808.4

p.T794T

c.2382G>A

1 paper

NM_181808.4

p.A795T

c.2383G>A

1 paper

NM_181808.4

p.A724E

c.2171C>A