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.C503G

c.1507T>G

Surrounding Variants

1 paper

NM_016937.4

p.P496L

c.1487C>T

1 paper

NM_001330360.2

p.P502S

c.1504C>T

1 paper

NM_001330360.2

p.P510Q

c.1529C>A

1 paper

NM_001330360.2

p.F493delFs

c.1477delT

1 paper

NM_001330360.2

p.T485insFs

c.1453dupA

6 papers

NM_016937.4

p.S458_A459Splc

c.1375-354A>G

NM_001330360.2

p.S464_A465Splc

c.1393-354A>G

1 paper

NM_001330360.2

p.K521I

c.1562A>T

1 paper

NM_001330360.2

p.M525delFs

c.1573delA

1 paper

NM_001330360.2

p.M525V

c.1573A>G

1 paper

NM_016937.4

p.V539V

c.1617G>C

1 paper

NM_001330360.2

p.Q554*

c.1660C>T

1 paper

NM_001330360.2

p.P453S

c.1357C>T