Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.D225Y

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.D225Y
c.673G>T
Surrounding Variants
1 paper
NM_178170.3
p.D225H
c.673G>C
1 paper
NM_178170.3
p.R226Q
c.677G>A
1 paper
NM_178170.3
p.P222_I223insA
c.664_668ins3
2 papers
NM_178170.3
p.E230V
c.689A>T
1 paper
NM_178170.3
p.I215T
c.644T>C
1 paper
NM_178170.3
p.V212M
c.634G>A
1 paper
NM_178170.3
p.P209L
c.626C>T
1 paper
NM_178170.3
p.R275W
c.823C>T
1 paper
NM_178170.3
p.R275Q
c.824G>A
1 paper
NM_178170.3
p.G287E
c.860G>A
1 paper
NM_178170.3
p.R289K
c.866G>A
1 paper
NM_178170.3
p.T291_C295del5
c.871_884del15
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