Varaico: Literature-Extracted Genetic Variants

Gene:PRIM1
Variant:p.R213Splc

PRIM1

65 papers

RefSeq Summary

The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is ...

Pfam Domains

DNA_primase_Saa 108–336UCSCDNA primase small subunit

Gene Aliases

HGNC Name

DNA primase subunit 1

HGNC Previous Names

primase, DNA, polypeptide 1 (49kDa); primase (DNA) subunit 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000946.3
p.R213Splc
c.638+36C>G
Surrounding Variants
1 paper
NM_000946.3
p.K207N
c.621A>T
1 paper
NM_000946.3
p.K207N
c.621A>C
1 paper
NM_000946.3
p.S205N
c.614G>A
1 paper
NM_000946.3
p.K214fs
c.640_641fs
1 paper
NM_000946.3
p.K214fs
c.640_641fs
1 paper
NM_000946.3
p.K221fs
c.661_662fs
1 paper
NM_000946.3
p.D232N
c.694G>A
1 paper
NM_000946.3
p.R182C
c.544C>T
1 paper
NM_000946.3
p.D171N
c.511G>A
1 paper
NM_000946.3
p.V169G
c.506T>G
1 paper
NM_000946.3
p.H166N
c.496C>A
1 paper
NM_000946.3
p.V158I
c.472G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."