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.C147S

c.439T>A

Surrounding Variants

1 paper

NM_001330360.2

p.T152I

c.455C>T

2 papers

NM_001330360.2

p.D154Y

c.460G>T

1 paper

NM_001330360.2

p.A133T

c.397G>A

1 paper

NM_001330360.2

p.A133S

c.397G>T

1 paper

NM_001330360.2

p.K131E

c.391A>G

3 papers

NM_016937.4

p.K118K

c.354A>G

1 paper

NM_001330360.2

p.K155R

c.464A>G

1 paper

NM_001330360.2

p.S160_K161ins5

c.478_482ins15

1 paper

NM_016937.4

p.K155R

c.464A>G

1 paper

NM_001330360.2

p.L165P

c.494T>C

1 paper

NM_016937.4

p.L166F

c.496C>T

1 paper

NM_001330360.2

p.T174A

c.520A>G