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.R1197S

c.3591G>T

Surrounding Variants

1 paper

NM_001330360.2

p.R1197S

c.3591G>C

1 paper

NM_001330360.2

p.A1200delFs

c.3599_3600delCG

1 paper

NM_001330360.2

p.E1202Q

c.3604G>C

1 paper

NM_001330360.2

p.N1191K

c.3573C>G

2 papers

NM_001330360.2

p.D1208H

c.3622G>C

1 paper

NM_001330360.2

p.I1241V

c.3721A>G

1 paper

NM_001330360.2

p.G1246E

c.3737G>A

1 paper

NM_001330360.2

p.C1186F

c.3557G>T

1 paper

NM_001330360.2

p.Q1170R

c.3509A>G