Varaico: Literature-Extracted Genetic Variants

PRIM2

94 papers

RefSeq Summary

This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This hetero...

Pfam Domains

DNA_primase_lrg_Naa 30–239UCSCEukaryotic and archaeal DNA primase, large subunit N-terminal domain

DNA_primase_lrgaa 277–448UCSCEukaryotic and archaeal DNA primase, large subunit C-terminal domain

Gene Aliases

HGNC Name

DNA primase subunit 2

HGNC Previous Symbol

PRIM2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000947.5

p.L108H

c.323T>A

Surrounding Variants

1 paper

NM_000947.5

p.H100Q

c.300T>A

1 paper

NM_000947.5

p.R86_E87Splc

c.259-1G>A

1 paper

NM_000947.5

p.I140L

c.418A>C

2 papers

NM_000947.5

p.R79W

c.235C>T

1 paper

NM_000947.5

p.E77E

c.231G>A

1 paper

NM_000947.5

p.E77insFs

c.230_231insT

1 paper

NM_000947.5

p.E77insFs

c.230_231insTG

1 paper

NM_000947.5

p.Q71L

c.212A>T

1 paper

NM_000947.5

p.G60E

c.179G>A

1 paper

NM_000947.5

p.V56I

c.166G>A

1 paper

NM_000947.5

p.I47V

c.139A>G

1 paper

NM_000947.5

p.P32A

c.94C>G