Varaico: Literature-Extracted Genetic Variants

Gene:NPIPB12
Variant:p.E287_V289delFs

NPIPB12

8 papers

Pfam Domains

NPIPaa 41–249UCSCNuclear pore complex interacting protein (NPIP)
NPB13-l_MII_rptaa 454–614UCSCNuclear pore complex-interacting protein B13-like, MII repeat
NPB13-l_MII_rptaa 544–671UCSCNuclear pore complex-interacting protein B13-like, MII repeat

Gene Aliases

HGNC Name

nuclear pore complex interacting protein family member B12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001395931.1
p.E287_V289delFs
c.859_865del7
Surrounding Variants
1 paper
NM_001395931.1
p.V289L
c.865G>T
1 paper
NM_001395931.1
p.V289L
c.865G>C
1 paper
NM_001395931.1
p.E287fs
c.859_860fs
1 paper
NM_001395931.1
p.P304T
c.910C>A
1 paper
NM_001395931.1
p.V270L
c.808G>T
1 paper
NM_001395931.1
p.V270L
c.808G>C
1 paper
NM_001395931.1
p.V270fs
c.808_809fs
1 paper
NM_001395931.1
p.L347F
c.1039C>T
2 papers
NM_001395931.1
p.A362ins4
c.1085_1086ins12
1 paper
NM_001395931.1
p.A358_A362ins1
c.1074_1085dup12
1 paper
NM_001395931.1
p.A354_A362del0
c.1062_1085del24
1 paper
NM_001395931.1
p.R391H
c.1172G>A
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