Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.E109*

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
2 papers
NM_005859.5
p.E109*
c.325G>T
Surrounding Variants
1 paper
NM_005859.5
p.F110fs
c.328_329fs
1 paper
NM_005859.5
p.F110delFs
c.330delC
3 papers
NM_005859.5
p.R111_L114del0
c.331_342del12
3 papers
NM_005859.5
p.Y113_L114insFs
c.338_341dup4
1 paper
NM_005859.5
p.V106_L114del9
c.316_341del27
3 papers
NM_005859.5
p.L114delFs
c.340delC
1 paper
NM_005859.5
p.L114del1
c.340_341delCTG
1 paper
NM_005859.5
p.M104fs
c.310_311fs
1 paper
NM_005859.5
p.S105_V106del0
c.313_318del6
2 papers
NM_005859.5
p.L114fs
c.340_341fs
3 papers
NM_005859.5
p.G115fs
c.343_344fs
6 papers
NM_005859.5
p.S103fs
c.307_308fs
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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."