Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.V246L

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.V246L
c.736G>T
Surrounding Variants
1 paper
NM_005859.5
p.V246L
c.736G>C
11 papers
NM_005859.5
p.R245P
c.734G>C
5 papers
NM_005859.5
p.R245*
c.733C>T
1 paper
NM_005859.5
p.M244L
c.730A>C
1 paper
NM_005859.5
p.M244L
c.730A>T
4 papers
NM_005859.5
p.V249delFs
c.745delG
3 papers
NM_005859.5
p.V249_K250insFs
c.746_749dup4
6 papers
NM_005859.5
p.F243fs
c.727_728fs
4 papers
NM_005859.5
p.K250fs
c.748_749fs
6 papers
NM_005859.5
p.V242_F243delFs
c.726_727delGT
1 paper
NM_005859.5
p.K250N
c.750G>C
1 paper
NM_005859.5
p.K250N
c.750G>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."