Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.K33M

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
4 papers
NM_178170.3
p.K33M
c.98A>T
Surrounding Variants
2 papers
NM_178170.3
p.K33R
c.98A>G
1 paper
NM_178170.3
p.L29L
c.87G>A
1 paper
NM_178170.3
p.T41I
c.122C>T
1 paper
NM_178170.3
p.R23Q
c.68G>A
2 papers
NM_178170.3
p.R23*
c.67C>T
9 papers
NM_178170.3
p.R45W
c.133C>T
1 paper
NM_178170.3
p.R45Q
c.134G>A
1 paper
NM_178170.3
p.Q49H
c.147G>C
1 paper
NM_178170.3
p.Q49H
c.147G>T
1 paper
NM_178170.3
p.G16Splc
c.48-2A>G
1 paper
NM_178170.3
p.E51_N59insFs
c.151_175dup25
1 paper
NM_178170.3
p.E51K
c.151G>A
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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."