Varaico: Literature-Extracted Genetic Variants

Gene:PRIM1
Variant:p.K221fs

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
1 paper
NM_000946.3
p.K221fs
c.661_662fs
Surrounding Variants
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.D232N
c.694G>A
4 papers
NM_000946.3
p.R213Splc
c.638+36C>G
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.T250Splc
c.749-1C>A
2 papers
NM_000946.3
p.S258R
c.772A>C
1 paper
NM_000946.3
p.L266_Q267delFs
c.796_800del5
1 paper
NM_000946.3
p.V275L
c.823G>T
1 paper
NM_000946.3
p.V275L
c.823G>C
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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."