Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.I206del1

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
4 papers
NM_005859.5
p.I206del1
c.616_617delATC
Surrounding Variants
8 papers
NM_005859.5
p.I206F
c.616A>T
1 paper
NM_005859.5
p.D208N
c.622G>A
1 paper
NM_005859.5
p.V211_E217insFs
c.632_651dup20
2 papers
NM_005859.5
p.R199H
c.596G>A
9 papers
NM_005859.5
p.R199P
c.596G>C
1 paper
NM_005859.5
p.R199fs
c.595_596fs
2 papers
NM_005859.5
p.F198insFs
c.593dupT
3 papers
NM_005859.5
p.I196fs
c.586_587fs
1 paper
NM_005859.5
p.E214*
c.640G>T
2 papers
NM_005859.5
p.I196delFs
c.586delA
3 papers
NM_005859.5
p.L195V
c.583C>G
2 papers
NM_005859.5
p.L195fs
c.583_584fs
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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."