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.K340_F341Splc

c.1021-30T>G

Surrounding Variants

4 papers

NM_000947.5

p.D342G

c.1025A>G

6 papers

NM_000947.5

p.Y345C

c.1034A>G

1 paper

NM_000947.5

p.Y345F

c.1034A>T

1 paper

NM_000947.5

p.Y347F

c.1040A>T

1 paper

NM_000947.5

p.Y347*

c.1041C>A

1 paper

NM_000947.5

p.Y347*

c.1041C>G

1 paper

NM_000947.5

p.I349F

c.1045A>T

3 papers

NM_000947.5

p.R350C

c.1048C>T

1 paper

NM_000947.5

p.C367S

c.1099T>A

1 paper

NM_000947.5

p.C367S

c.1100G>C

1 paper

NM_000947.5

p.I371M

c.1113T>G

1 paper

NM_000947.5

p.H382D

c.1144C>G