Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.L15_S20insFs

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.L15_S20insFs
c.45_60dup16
Surrounding Variants
1 paper
NM_005859.5
p.L15delins
c.44delinsTGGGTTC
1 paper
NM_005859.5
p.L15fs
c.43_44fs
4 papers
NM_005859.5
p.L15fs
c.43_44fs
1 paper
NM_005859.5
p.A14P
c.40G>C
2 papers
NM_005859.5
p.A14_L15delFs
c.42_43delGC
1 paper
NM_005859.5
p.S17fs
c.49_50fs
1 paper
NM_005859.5
p.S17*
c.50C>A
1 paper
NM_005859.5
p.A13delins
c.38_39delinsTT
1 paper
NM_005859.5
p.A13fs
c.37_38fs
1 paper
NM_005859.5
p.G18C
c.52G>T
3 papers
NM_005859.5
p.A13_G18delFs
c.37_52del16
1 paper
NM_005859.5
p.G18V
c.53G>T
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