Varaico: Literature-Extracted Genetic Variants

Gene:NEK8

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
1–12 of 128 variants
12 papers
NM_178170.3
p.R599*
c.1795C>T
9 papers
NM_178170.3
p.R45W
c.133C>T
8 papers
NM_178170.3
p.H425Y
c.1273C>T
6 papers
NM_178170.3
p.L330F
c.988C>T
6 papers
NM_178170.3
p.A497P
c.1489G>C
5 papers
NM_178170.3
p.R462*
c.1384C>T
5 papers
NM_178170.3
p.R602W
c.1804C>T
4 papers
NM_178170.3
p.K33M
c.98A>T
4 papers
NM_178170.3
p.T87A
c.259A>G
4 papers
NM_178170.3
p.I124T
c.371T>C
4 papers
NM_178170.3
p.R127*
c.379C>T
4 papers
NM_178170.3
p.I150M
c.450C>G
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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."