Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.R642*

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.R642*
c.1924C>T
Surrounding Variants
1 paper
NM_178170.3
p.R642Q
c.1925G>A
1 paper
NM_178170.3
p.D649N
c.1945G>A
1 paper
NM_178170.3
p.S670delFs
c.2010delC
1 paper
NM_178170.3
p.C673Y
c.2018G>A
1 paper
NM_178170.3
p.R683G
c.2047C>G
1 paper
NM_178170.3
p.D622delFs
c.1864delG
1 paper
NM_178170.3
p.I613F
c.1837A>T
5 papers
NM_178170.3
p.R602W
c.1804C>T
12 papers
NM_178170.3
p.R599*
c.1795C>T
3 papers
NM_178170.3
p.G580S
c.1738G>A
1 paper
NM_178170.3
p.S579L
c.1736C>T
1 paper
NM_178170.3
p.V685_E688delFs
c.2054_2064del11
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