Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.D128A

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
2 papers
NM_178170.3
p.D128A
c.383A>C
Surrounding Variants
1 paper
NM_178170.3
p.R127G
c.379C>G
4 papers
NM_178170.3
p.R127*
c.379C>T
4 papers
NM_178170.3
p.I124T
c.371T>C
1 paper
NM_178170.3
p.H117Y
c.349C>T
1 paper
NM_178170.3
p.R140H
c.419G>A
1 paper
NM_178170.3
p.R140L
c.419G>T
1 paper
NM_178170.3
p.F109del1
c.325_327delTTC
1 paper
NM_178170.3
p.L106R
c.317T>G
4 papers
NM_178170.3
p.I150M
c.450C>G
1 paper
NM_178170.3
p.I105T
c.314T>C
1 paper
NM_178170.3
p.S155G
c.463A>G
4 papers
NM_178170.3
p.K157Q
c.469A>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."