Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.K144*

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.K144*
c.430A>T
Surrounding Variants
2 papers
NM_005859.5
p.K144E
c.430A>G
1 paper
NM_005859.5
p.K144_E146del3
c.430_437del9
1 paper
NM_005859.5
p.S145fs
c.433_434fs
1 paper
NM_005859.5
p.R141fs
c.421_422fs
1 paper
NM_005859.5
p.L148delFs
c.442delC
7 papers
NM_005859.5
p.R140P
c.419G>C
1 paper
NM_005859.5
p.R140Fs
c.419delinsGCFs
3 papers
NM_005859.5
p.L148fs
c.442_443fs
1 paper
NM_005859.5
p.E138G
c.413A>G
1 paper
NM_005859.5
p.R150delFs
c.449delG
4 papers
NM_005859.5
p.R150fs
c.448_449fs
1 paper
NM_005859.5
p.E138*
c.412G>T
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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."