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.D68G

c.203A>G

Surrounding Variants

1 paper

NM_001330360.2

p.E70*

c.208G>T

1 paper

NM_001330360.2

p.E66K

c.196G>A

1 paper

NM_001330360.2

p.Q71R

c.212A>G

1 paper

NM_016937.4

p.K68R

c.203A>G

1 paper

NM_001330360.2

p.R79delFs

c.236delG

1 paper

NM_001330360.2

p.V57G

c.170T>G

1 paper

NM_001330360.2

p.D83G

c.248A>G

1 paper

NM_001330360.2

p.W84C

c.252G>C

1 paper

NM_001330360.2

p.W84C

c.252G>T

2 papers

NM_016937.4

p.I79S

c.236T>G

1 paper

NM_001330360.2

p.E95G

c.284A>G

1 paper

NM_001330360.2

p.D102Y

c.304G>T