Varaico: Literature-Extracted Genetic Variants

Gene:PMFBP1
Variant:p.L552V

PMFBP1

95 papers

Gene Aliases

HGNC Name

polyamine modulated factor 1 binding protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_031293.3
p.L552V
c.1654C>G
Surrounding Variants
1 paper
NM_031293.3
p.S553L
c.1658C>T
1 paper
NM_031293.3
p.R548Q
c.1643G>A
1 paper
NM_031293.3
p.Q574*
c.1720C>T
1 paper
NM_031293.3
p.Q574E
c.1720C>G
1 paper
NM_031293.3
p.L573delFs
c.1718delA
1 paper
NM_031293.3
p.M587I
c.1761G>T
1 paper
NM_031293.3
p.M587I
c.1761G>C
1 paper
NM_031293.3
p.M587I
c.1761G>A
2 papers
NM_031293.3
p.R590P
c.1769G>C
1 paper
NM_031293.3
p.K592delFs
c.1774_1775delTT
1 paper
NM_031293.3
p.S536ins1
c.1606_1607insTGT
1 paper
NM_031293.3
p.E534*
c.1600G>T
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