Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.F243fs

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
6 papers
NM_005859.5
p.F243fs
c.727_728fs
Surrounding Variants
1 paper
NM_005859.5
p.M244L
c.730A>C
1 paper
NM_005859.5
p.M244L
c.730A>T
6 papers
NM_005859.5
p.V242_F243delFs
c.726_727delGT
5 papers
NM_005859.5
p.R245*
c.733C>T
1 paper
NM_005859.5
p.G241fs
c.721_722fs
1 paper
NM_005859.5
p.Y240_G241Fs
c.720_722delinsCGFs
11 papers
NM_005859.5
p.R245P
c.734G>C
1 paper
NM_005859.5
p.V246L
c.736G>C
1 paper
NM_005859.5
p.V246L
c.736G>T
3 papers
NM_005859.5
p.N238fs
c.712_713fs
4 papers
NM_005859.5
p.V249delFs
c.745delG
1 paper
NM_005859.5
p.S237F
c.710C>T
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