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.D107E

c.321T>A

Surrounding Variants

1 paper

NM_001330360.2

p.D107E

c.321T>G

2 papers

NM_001330360.2

p.D107A

c.320A>C

1 paper

NM_001330360.2

p.L110P

c.329T>C

1 paper

NM_001330360.2

p.D111A

c.332A>C

1 paper

NM_001330360.2

p.D102Y

c.304G>T

1 paper

NM_001330360.2

p.K115T

c.344A>C

1 paper

NM_001330360.2

p.G116delFs

c.346delG

2 papers

NM_016937.4

p.G110R

c.328G>A

2 papers

NM_016937.4

p.G110R

c.328G>C

1 paper

NM_001330360.2

p.E95G

c.284A>G

2 papers

NM_016937.4

p.I79S

c.236T>G

1 paper

NM_001330360.2

p.W84C

c.252G>C