Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.N2082D

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
3 papers
NM_020921.4
p.N2082D
c.6244A>G
Surrounding Variants
1 paper
NM_020921.4
p.L2085F
c.6255G>T
1 paper
NM_020921.4
p.T2092I
c.6275C>T
1 paper
NM_020921.4
p.K2109_I2110del1
c.6326_6328delTCT
1 paper
NM_020921.4
p.K2109_I2110del2
c.6325_6329del6
1 paper
NM_020921.4
p.I2116M
c.6348A>G
1 paper
NM_020921.4
p.N2119H
c.6355A>C
1 paper
NM_020921.4
p.K2057Q
c.6169A>C
1 paper
NM_020921.4
p.E2044Q
c.6130G>C
1 paper
NM_020921.4
p.R2039*
c.6115C>T
1 paper
NM_020921.4
p.G2027R
c.6079G>C
1 paper
NM_020921.4
p.G2027R
c.6079G>A
1 paper
NM_020921.4
p.T2019A
c.6055A>G
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