Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.I118fs

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.I118fs
c.352_353fs
Surrounding Variants
3 papers
NM_005859.5
p.F117insFs
c.351dupC
1 paper
NM_005859.5
p.H120_P129delFs
c.358_386del29
1 paper
NM_005859.5
p.H120D
c.358C>G
1 paper
NM_005859.5
p.D116fs
c.346_347fs
1 paper
NM_005859.5
p.D116_E119delFs
c.346_356del11
3 papers
NM_005859.5
p.G115fs
c.343_344fs
1 paper
NM_005859.5
p.A122_Q123insFs
c.366_367dupGC
1 paper
NM_005859.5
p.Y121Fs
c.362_363delinsAFs
11 papers
NM_005859.5
p.Y121*
c.363C>A
12 papers
NM_005859.5
p.Y121*
c.363C>G
2 papers
NM_005859.5
p.L114fs
c.340_341fs
1 paper
NM_005859.5
p.L114del1
c.340_341delCTG
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