Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.E612K

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.E612K
c.1834G>A
Surrounding Variants
1 paper
NM_020921.4
p.E616Q
c.1846G>C
1 paper
NM_020921.4
p.Q617H
c.1851A>T
1 paper
NM_020921.4
p.Q617H
c.1851A>C
1 paper
NM_020921.4
p.L601F
c.1803G>T
1 paper
NM_020921.4
p.L601F
c.1803G>C
1 paper
NM_020921.4
p.N599K
c.1797T>G
1 paper
NM_020921.4
p.N599K
c.1797T>A
1 paper
NM_020921.4
p.K632_V633Splc
c.1896+1G>A
3 papers
NM_020921.4
p.E642K
c.1924G>A
1 paper
NM_020921.4
p.T664I
c.1991C>T
1 paper
NM_020921.4
p.E675K
c.2023G>A
2 papers
NM_020921.4
p.G681R
c.2041G>C
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