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

1–12 of 161 variants

4 papers

NM_016937.4

p.S458_A459Splc

c.1375-354A>G

3 papers

NM_016937.4

p.K118K

c.354A>G

2 papers

NM_016937.4

p.I79S

c.236T>G

2 papers

NM_001330360.2

p.D107A

c.320A>C

2 papers

NM_016937.4

p.G110R

c.328G>A

2 papers

NM_016937.4

p.G110R

c.328G>C

2 papers

NM_001330360.2

p.D154Y

c.460G>T

2 papers

NM_016937.4

p.E169_T170Splc

c.507+1G>A

2 papers

NM_001330360.2

p.S464_A465Splc

c.1393-354A>G

2 papers

NM_001330360.2

p.K854E

c.2560A>G

2 papers

NM_001330360.2

p.L864F

c.2590C>T

2 papers

NM_001330360.2

p.D1208H

c.3622G>C