Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.S295L

NEK1

314 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role i...

Pfam Domains

Pkinaseaa 4–258UCSCProtein kinase domain

Gene Aliases

HGNC Name

NIMA related kinase 1

HGNC Alias Symbols

NY-REN-55; KIAA1901

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199397.3
p.S295L
c.884C>T
Surrounding Variants
1 paper
NM_001199397.3
p.N298K
c.894C>G
1 paper
NM_001199397.3
p.N298K
c.894C>A
2 papers
NM_001199397.3
p.I300T
c.899T>C
4 papers
NM_001199397.3
p.A290Splc
c.869-1G>T
7 papers
NM_001199397.3
p.A290Splc
c.869-2A>G
1 paper
NM_001199397.3
p.V302A
c.905T>C
1 paper
NM_001199397.3
p.M303T
c.908T>C
1 paper
NM_001199397.3
p.I308M
c.924T>G
1 paper
NM_001199397.3
p.A312A
c.936C>G
1 paper
NM_001199397.3
p.A313T
c.937G>A
1 paper
NM_001199397.3
p.K314I
c.941A>T
1 paper
NM_001199397.3
p.P318R
c.953C>G
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