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

1 paper

NM_000947.5

p.N445K

c.1335T>G

Surrounding Variants

1 paper

NM_000947.5

p.N445K

c.1335T>A

1 paper

NM_000947.5

p.S451I

c.1352G>T

3 papers

NM_000947.5

p.R453S

c.1357C>A

1 paper

NM_000947.5

p.V434E

c.1301T>A

1 paper

NM_000947.5

p.E464Q

c.1390G>C