Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.I196delFs

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.I196delFs
c.586delA
Surrounding Variants
3 papers
NM_005859.5
p.I196fs
c.586_587fs
3 papers
NM_005859.5
p.L195V
c.583C>G
2 papers
NM_005859.5
p.L195fs
c.583_584fs
2 papers
NM_005859.5
p.I196del1
c.586_587delATC
3 papers
NM_005859.5
p.L195delFs
c.583delC
2 papers
NM_005859.5
p.G194E
c.581G>A
2 papers
NM_005859.5
p.F198insFs
c.593dupT
1 paper
NM_005859.5
p.Q193*
c.577C>T
1 paper
NM_005859.5
p.A192V
c.575C>T
1 paper
NM_005859.5
p.R199fs
c.595_596fs
2 papers
NM_005859.5
p.R199H
c.596G>A
9 papers
NM_005859.5
p.R199P
c.596G>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."