Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.Q1336*

NIN

244 papers

RefSeq Summary

This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this ...

Pfam Domains

Ninein_midaa 292–470UCSCNinein middle domain
Ninein_long_CCaa 606–977UCSCNinein long Coiled-coil domain

Gene Aliases

HGNC Name

ninein

HGNC Previous Name

ninein (GSK3B interacting protein)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020921.4
p.Q1336*
c.4006C>T
Surrounding Variants
1 paper
NM_020921.4
p.E1337Q
c.4009G>C
1 paper
NM_020921.4
p.E1333*
c.3997G>T
1 paper
NM_020921.4
p.G1330S
c.3988G>A
3 papers
NM_020921.4
p.G1320E
c.3959G>A
1 paper
NM_020921.4
p.E1353*
c.4057G>T
1 paper
NM_020921.4
p.I1357I
c.4071C>T
1 paper
NM_020921.4
p.E1313*
c.3937G>T
1 paper
NM_020921.4
p.D1312N
c.3934G>A
1 paper
NM_020921.4
p.Q1365*
c.4093C>T
1 paper
NM_020921.4
p.E1372Q
c.4114G>C
1 paper
NM_020921.4
p.Q1291*
c.3871C>T
1 paper
NM_020921.4
p.Q1389K
c.4165C>A
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