Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.L114del1

PURA

172 papers

RefSeq Summary

This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replic...

Pfam Domains

PurAaa 58–278UCSCPurA ssDNA and RNA-binding protein

Gene Aliases

HGNC Name

purine rich element binding protein A

HGNC Alias Symbols

PURALPHA; PUR1; PUR-ALPHA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005859.5
p.L114del1
c.340_341delCTG
Surrounding Variants
3 papers
NM_005859.5
p.L114delFs
c.340delC
2 papers
NM_005859.5
p.L114fs
c.340_341fs
3 papers
NM_005859.5
p.Y113_L114insFs
c.338_341dup4
3 papers
NM_005859.5
p.G115fs
c.343_344fs
1 paper
NM_005859.5
p.D116_E119delFs
c.346_356del11
1 paper
NM_005859.5
p.D116fs
c.346_347fs
3 papers
NM_005859.5
p.R111_L114del0
c.331_342del12
1 paper
NM_005859.5
p.F110delFs
c.330delC
3 papers
NM_005859.5
p.F117insFs
c.351dupC
1 paper
NM_005859.5
p.F110fs
c.328_329fs
3 papers
NM_005859.5
p.I118fs
c.352_353fs
2 papers
NM_005859.5
p.E109*
c.325G>T
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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."