Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.I188fs

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
3 papers
NM_005859.5
p.I188fs
c.562_563fs
Surrounding Variants
12 papers
NM_005859.5
p.I188T
c.563T>C
2 papers
NM_005859.5
p.I188S
c.563T>G
1 paper
NM_005859.5
p.I188_Q193delFs
c.563_578del16
5 papers
NM_005859.5
p.A189P
c.565G>C
2 papers
NM_005859.5
p.A189fs
c.565_566fs
6 papers
NM_005859.5
p.Q186*
c.556C>T
5 papers
NM_005859.5
p.P191L
c.572C>T
1 paper
NM_005859.5
p.Q184*
c.550C>T
1 paper
NM_005859.5
p.A192V
c.575C>T
1 paper
NM_005859.5
p.Q193*
c.577C>T
2 papers
NM_005859.5
p.G194E
c.581G>A
3 papers
NM_005859.5
p.L195delFs
c.583delC
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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."