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.W1090delFs

c.3270delG

Surrounding Variants

1 paper

NM_001330360.2

p.D1092delFs

c.3276delT

1 paper

NM_001330360.2

p.K1095insFs

c.3283_3284ins4

1 paper

NM_001330360.2

p.A1062T

c.3184G>A

1 paper

NM_016937.4

p.K1051E

c.3151A>G

1 paper

NM_001330360.2

p.K1051E

c.3151A>G

1 paper

NM_001330360.2

p.G1048_V1049del2

c.3142_3146del6

1 paper

NM_001330360.2

p.V1024delFs

c.3072delA

1 paper

NM_001330360.2

p.L1021L

c.3061C>T

1 paper

NM_001330360.2

p.N1015_T1016insC

c.3043_3047ins3

1 paper

NM_001330360.2

p.G1007_D1008delFs

c.3021_3022delAG

1 paper

NM_001330360.2

p.Q1170R

c.3509A>G

1 paper

NM_001330360.2

p.C1186F

c.3557G>T