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.C697W

c.2091T>G

Surrounding Variants

1 paper

NM_001330360.2

p.I701M

c.2103T>G

1 paper

NM_016937.4

p.R720K

c.2159G>A

1 paper

NM_001330360.2

p.V728V

c.2184A>G

1 paper

NM_001330360.2

p.N736insFs

c.2207_2208insC

1 paper

NM_001330360.2

p.G669R

c.2005G>C

1 paper

NM_001330360.2

p.N644_I645ins0

c.1930_1935dup6

1 paper

NM_001330360.2

p.L748F

c.2244G>C

1 paper

NM_001330360.2

p.L748F

c.2244G>T

1 paper

NM_001330360.2

p.P769T

c.2305C>A

1 paper

NM_001330360.2

p.R784G

c.2350A>G

1 paper

NM_001330360.2

p.H800Y

c.2398C>T

1 paper

NM_001330360.2

p.E804_Y807del0

c.2412_2420del9