Varaico: Literature-Extracted Genetic Variants

Gene:NPIPB11
Variant:p.G547delFs

NPIPB11

46 papers

Pfam Domains

NPIPaa 41–247UCSCNuclear pore complex interacting protein (NPIP)
NPB13-l_MII_rptaa 590–759UCSCNuclear pore complex-interacting protein B13-like, MII repeat
NPB13-l_MII_rptaa 753–891UCSCNuclear pore complex-interacting protein B13-like, MII repeat

Gene Aliases

HGNC Name

nuclear pore complex interacting protein family member B11

HGNC Previous Name

nuclear pore complex interacting protein family, member B11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001310137.5
p.G547delFs
c.1641delC
Surrounding Variants
1 paper
NM_001310137.5
p.H544R
c.1631A>G
1 paper
NM_001310137.5
p.T541P
c.1621A>C
4 papers
NM_001310137.5
p.D535delFs
c.1605delA
3 papers
NM_001310137.5
p.D535fs
c.1603_1604fs
1 paper
NM_001310137.5
p.D535fs
c.1603_1604fs
1 paper
NM_001310137.5
p.P531_P532delFs
c.1592_1596del5
1 paper
NM_001310137.5
p.R521H
c.1562G>A
1 paper
NM_001310137.5
p.E520fs
c.1558_1559fs
1 paper
NM_001310137.5
p.S519delFs
c.1557delA
1 paper
NM_001310137.5
p.D578H
c.1732G>C
1 paper
NM_001310137.5
p.A511A
c.1533G>C
1 paper
NM_001310137.5
p.H586R
c.1757A>G
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