Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.E138G

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
1 paper
NM_005859.5
p.E138G
c.413A>G
Surrounding Variants
1 paper
NM_005859.5
p.E138*
c.412G>T
1 paper
NM_005859.5
p.Q136P
c.407A>C
7 papers
NM_005859.5
p.R140P
c.419G>C
1 paper
NM_005859.5
p.R140Fs
c.419delinsGCFs
1 paper
NM_005859.5
p.R141fs
c.421_422fs
1 paper
NM_005859.5
p.Q134fs
c.400_401fs
1 paper
NM_005859.5
p.K144_E146del3
c.430_437del9
2 papers
NM_005859.5
p.A133_Q134insFs
c.399_400dupCC
2 papers
NM_005859.5
p.K144E
c.430A>G
1 paper
NM_005859.5
p.K144*
c.430A>T
1 paper
NM_005859.5
p.L132V
c.394C>G
1 paper
NM_005859.5
p.S145fs
c.433_434fs
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