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

2 papers

NM_000947.5

p.P286R

c.857C>G

Surrounding Variants

1 paper

NM_000947.5

p.P286_C287delins

c.857_860delinsCTTG

5 papers

NM_000947.5

p.E297insFs

c.890_891insA

2 papers

NM_000947.5

p.E297fs

c.889_890fs

1 paper

NM_000947.5

p.N298fs

c.892_893fs

2 papers

NM_000947.5

p.G304*

c.910G>T

1 paper

NM_000947.5

p.G310D

c.929G>A

2 papers

NM_000947.5

p.G310V

c.929G>T

7 papers

NM_000947.5

p.Q325*

c.973C>T

1 paper

NM_000947.5

p.K340N

c.1020G>C

1 paper

NM_000947.5

p.K340N

c.1020G>T

1 paper

NM_000947.5

p.Q265L

c.794A>T

1 paper

NM_000947.5

p.G259V

c.776G>T