Varaico: Literature-Extracted Genetic Variants

Gene:PMFBP1
Variant:p.Q488*

PMFBP1

95 papers

Gene Aliases

HGNC Name

polyamine modulated factor 1 binding protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_031293.3
p.Q488*
c.1462C>T
Surrounding Variants
2 papers
NM_031293.3
p.Q488Q
c.1464G>A
1 paper
NM_031293.3
p.E492Q
c.1474G>C
1 paper
NM_031293.3
p.C498*
c.1494T>A
1 paper
NM_031293.3
p.K517T
c.1550A>C
1 paper
NM_031293.3
p.I521delFs
c.1561delT
1 paper
NM_031293.3
p.Q522_Q525del4
c.1564_1574del12
1 paper
NM_031293.3
p.E534*
c.1600G>T
1 paper
NM_031293.3
p.S536ins1
c.1606_1607insTGT
1 paper
NM_031293.3
p.R548Q
c.1643G>A
3 papers
NM_031293.3
p.L552V
c.1654C>G
1 paper
NM_031293.3
p.S553L
c.1658C>T
1 paper
NM_031293.3
p.Q574*
c.1720C>T
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