Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.I105T

NEK8

122 papers

RefSeq Summary

This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progress...

Pfam Domains

Pkinaseaa 4–258UCSCProtein kinase domain
WD40_RLDaa 313–680UCSCRCC1-like domain

Gene Aliases

HGNC Name

NIMA related kinase 8

HGNC Alias Symbol

NPHP9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178170.3
p.I105T
c.314T>C
Surrounding Variants
1 paper
NM_178170.3
p.L106R
c.317T>G
1 paper
NM_178170.3
p.F109del1
c.325_327delTTC
1 paper
NM_178170.3
p.N97_L99delFs
c.291_295del5
1 paper
NM_178170.3
p.C96R
c.286T>C
1 paper
NM_178170.3
p.R95H
c.284G>A
1 paper
NM_178170.3
p.H117Y
c.349C>T
1 paper
NM_178170.3
p.Q93K
c.277C>A
4 papers
NM_178170.3
p.T87A
c.259A>G
4 papers
NM_178170.3
p.I124T
c.371T>C
1 paper
NM_178170.3
p.G86C
c.256G>T
1 paper
NM_178170.3
p.R127G
c.379C>G
4 papers
NM_178170.3
p.R127*
c.379C>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."