Varaico: Literature-Extracted Genetic Variants

Gene:POLA2
Variant:p.D517H

POLA2

60 papers

Pfam Domains

Pol_alpha_B_Naa 6–72UCSCDNA polymerase alpha subunit B N-terminal
OB_DPOA2aa 217–322UCSCDNA polymerase alpha subunit B, OB domain
DNA_pol_E_Baa 342–549UCSCDNA polymerase alpha/epsilon subunit B

Gene Aliases

HGNC Name

DNA polymerase alpha 2, accessory subunit

HGNC Alias Symbol

FLJ21662

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002689.4
p.D517H
c.1549G>C
Surrounding Variants
1 paper
NM_002689.4
p.P541L
c.1622C>T
1 paper
NM_002689.4
p.K549R
c.1646A>G
1 paper
NM_002689.4
p.S496S
c.1488C>T
1 paper
NM_002689.4
p.F469F
c.1407C>T
1 paper
NM_002689.4
p.D582Y
c.1744G>T
6 papers
NM_002689.4
p.G583R
c.1747G>A
6 papers
NM_002689.4
p.G583R
c.1747G>C
2 papers
NM_002689.4
p.S588N
c.1763G>A
1 paper
NM_002689.4
p.Q594*
c.1780C>T
1 paper
NM_002689.4
p.E448K
c.1342G>A
1 paper
NM_002689.4
p.L445L
c.1333C>T
1 paper
NM_002689.4
p.P433S
c.1297C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."