Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.M555_G556Splc

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
2 papers
NM_001199397.3
p.M555_G556Splc
c.1665+2T>C
Surrounding Variants
3 papers
NM_001199397.3
p.M555I
c.1665G>T
3 papers
NM_001199397.3
p.M555I
c.1665G>C
3 papers
NM_001199397.3
p.M555I
c.1665G>A
1 paper
NM_001199397.3
p.M555V
c.1663A>G
6 papers
NM_001199397.3
p.R550*
c.1648C>T
8 papers
NM_001199397.3
p.N547insFs
c.1640dupA
2 papers
NM_001199397.3
p.N547fs
c.1639_1640fs
3 papers
NM_001199397.3
p.Q546R
c.1637A>G
1 paper
NM_001199397.3
p.M545R
c.1634T>G
7 papers
NM_001199397.3
p.M545T
c.1634T>C
1 paper
NM_001199397.3
p.A544D
c.1631C>A
2 papers
NM_001199397.3
p.R542Q
c.1625G>A
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