Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.Q1263*

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.Q1263*
c.3787C>T
Surrounding Variants
1 paper
NM_020921.4
p.C1261F
c.3782G>T
1 paper
NM_020921.4
p.E1258Q
c.3772G>C
1 paper
NM_020921.4
p.R1257*
c.3769C>T
1 paper
NM_020921.4
p.Y1273*
c.3819C>G
1 paper
NM_020921.4
p.Y1273*
c.3819C>A
1 paper
NM_020921.4
p.A1244insFs
c.3731_3732ins4
1 paper
NM_020921.4
p.Q1291*
c.3871C>T
1 paper
NM_020921.4
p.F1226delFs
c.3678delA
1 paper
NM_020921.4
p.L1225I
c.3673C>A
3 papers
NM_020921.4
p.Q1222R
c.3665A>G
1 paper
NM_020921.4
p.K1221N
c.3663A>T
1 paper
NM_020921.4
p.K1221N
c.3663A>C
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