Varaico: Literature-Extracted Genetic Variants

POLA1

122 papers

RefSeq Summary

This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential r...

Pfam Domains

DNA_pol_alpha_Naa 35–96UCSCDNA polymerase alpha subunit p180 N terminal

DNA_pol_B_exo1aa 474–711UCSCDNA polymerase family B, exonuclease domain

DNA_pol_Baa 774–1227UCSCDNA polymerase family B

zf-DNA_Polaa 1265–1455UCSCDNA Polymerase alpha zinc finger

Gene Aliases

HGNC Name

DNA polymerase alpha 1, catalytic subunit

HGNC Previous Symbol

NSX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330360.2

p.N879delFs

c.2636delA

Surrounding Variants

1 paper

NM_016937.4

p.I874_C875ins5

c.2620_2624ins15

1 paper

NM_001330360.2

p.I874_I875ins4

c.2620_2624ins12

2 papers

NM_001330360.2

p.L864F

c.2590C>T

1 paper

NM_001330360.2

p.F857_Y858ins0

c.2569_2574dup6

2 papers

NM_001330360.2

p.K854E

c.2560A>G

1 paper

NM_001330360.2

p.D852_K854del0

c.2555_2560del6

1 paper

NM_016937.4

p.G841A

c.2522G>C

1 paper

NM_001330360.2

p.R840H

c.2519G>A

1 paper

NM_001330360.2

p.G831delFs

c.2492_2493delGA

1 paper

NM_001330360.2

p.Q930_Q938del0

c.2789_2812del24

1 paper

NM_001330360.2

p.Q930insFs

c.2789dupA

1 paper

NM_001330360.2

p.L934fs

c.2800_2801fs