Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.L54fs

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
15 papers
NM_005859.5
p.L54fs
c.160_161fs
Surrounding Variants
2 papers
NM_005859.5
p.G53_L61ins3
c.159_182dup24
1 paper
NM_005859.5
p.Q55*
c.163C>T
2 papers
NM_005859.5
p.Q55fs
c.163_164fs
6 papers
NM_005859.5
p.G53fs
c.157_158fs
8 papers
NM_005859.5
p.G53insFs
c.159dupG
3 papers
NM_005859.5
p.G52delFs
c.155delG
3 papers
NM_005859.5
p.G53delFs
c.158_159delGG
1 paper
NM_005859.5
p.E57_T58insFs
c.171_172dupGA
4 papers
NM_005859.5
p.P51delFs
c.153delA
2 papers
NM_005859.5
p.P51fs
c.151_152fs
1 paper
NM_005859.5
p.P51fs
c.151_152fs
1 paper
NM_005859.5
p.E57fs
c.169_170fs
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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."