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

1–12 of 64 variants

7 papers

NM_000947.5

p.Q325*

c.973C>T

6 papers

NM_000947.5

p.D204G

c.611A>G

6 papers

NM_000947.5

p.Y345C

c.1034A>G

5 papers

NM_000947.5

p.E297insFs

c.890_891insA

4 papers

NM_000947.5

p.E181K

c.541G>A

4 papers

NM_000947.5

p.D342G

c.1025A>G

3 papers

NM_000947.5

p.L108H

c.323T>A

3 papers

NM_000947.5

p.R350C

c.1048C>T

3 papers

NM_000947.5

p.R453S

c.1357C>A

2 papers

NM_000947.5

p.R79W

c.235C>T

2 papers

NM_000947.5

p.P286R

c.857C>G

2 papers

NM_000947.5

p.E297fs

c.889_890fs