Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.Q769R

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.Q769R
c.2306A>G
Surrounding Variants
1 paper
NM_020921.4
p.L762fs
c.2284_2285fs
1 paper
NM_020921.4
p.V755M
c.2263G>A
1 paper
NM_020921.4
p.L789S
c.2366T>C
1 paper
NM_020921.4
p.G744C
c.2230G>T
1 paper
NM_020921.4
p.R800Splc
c.2399+1G>A
1 paper
NM_020921.4
p.E726E
c.2178G>A
1 paper
NM_020921.4
p.K712N
c.2136G>T
1 paper
NM_020921.4
p.K712N
c.2136G>C
1 paper
NM_020921.4
p.K712*
c.2134A>T
1 paper
NM_020921.4
p.E710K
c.2128G>A
1 paper
NM_020921.4
p.Q703_L704delFs
c.2109_2110delGT
2 papers
NM_020921.4
p.G681R
c.2041G>C
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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."