Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.L1144V

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.L1144V
c.3430C>G
Surrounding Variants
1 paper
NM_020921.4
p.H1142L
c.3425A>T
1 paper
NM_020921.4
p.V1138G
c.3413T>G
1 paper
NM_020921.4
p.E1136del1
c.3406_3407delTTC
1 paper
NM_020921.4
p.E1136D
c.3408A>T
1 paper
NM_020921.4
p.E1136D
c.3408A>C
1 paper
NM_020921.4
p.Q1134K
c.3400C>A
1 paper
NM_020921.4
p.G1159V
c.3476G>T
1 paper
NM_020921.4
p.Q1125L
c.3374A>T
2 papers
NM_020921.4
p.Q1125P
c.3374A>C
1 paper
NM_020921.4
p.V1163L
c.3487G>C
1 paper
NM_020921.4
p.Q1164E
c.3490C>G
1 paper
NM_020921.4
p.Q1166H
c.3498G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."