Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.R352L

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.R352L
c.1055G>T
Surrounding Variants
1 paper
NM_178170.3
p.G351E
c.1052G>A
1 paper
NM_178170.3
p.G351R
c.1051G>A
1 paper
NM_178170.3
p.G351R
c.1051G>C
1 paper
NM_178170.3
p.R349_S350delFs
c.1047_1050del4
2 papers
NM_178170.3
p.T348M
c.1043C>T
1 paper
NM_178170.3
p.G346S
c.1036G>A
6 papers
NM_178170.3
p.L330F
c.988C>T
1 paper
NM_178170.3
p.P324P
c.972C>G
1 paper
NM_178170.3
p.V314M
c.940G>A
1 paper
NM_178170.3
p.S312L
c.935C>T
1 paper
NM_178170.3
p.P309S
c.925C>T
1 paper
NM_178170.3
p.I307I
c.921C>A
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