Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.G47fs

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.G47fs
c.139_140fs
Surrounding Variants
1 paper
NM_005859.5
p.G48G
c.144C>G
1 paper
NM_005859.5
p.G49del1
c.145_146delGGG
2 papers
NM_005859.5
p.G45_G46insFs
c.135_138dup4
2 papers
NM_005859.5
p.A50_G52insFs
c.149_156dup8
2 papers
NM_005859.5
p.S43_G44ins1
c.129_130insGGC
1 paper
NM_005859.5
p.G48_G49del1
c.144_146delCGG
1 paper
NM_005859.5
p.P51_L54delFs
c.151_161del11
4 papers
NM_005859.5
p.S43fs
c.127_128fs
2 papers
NM_005859.5
p.P51fs
c.151_152fs
1 paper
NM_005859.5
p.P51fs
c.151_152fs
4 papers
NM_005859.5
p.P51delFs
c.153delA
8 papers
NM_005859.5
p.G53insFs
c.159dupG
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