Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.R742C

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.R742C
c.2224C>T
Surrounding Variants
1 paper
NM_001199397.3
p.R742del1
c.2224_2226delACG
1 paper
NM_001199397.3
p.N745S
c.2234A>G
8 papers
NM_001199397.3
p.N745K
c.2235T>G
8 papers
NM_001199397.3
p.N745K
c.2235T>A
4 papers
NM_001199397.3
p.R738*
c.2212C>T
1 paper
NM_001199397.3
p.Q751Q
c.2253A>G
6 papers
NM_001199397.3
p.E752G
c.2255A>G
1 paper
NM_001199397.3
p.D753G
c.2258A>G
1 paper
NM_001199397.3
p.S761fs
c.2281_2282fs
1 paper
NM_001199397.3
p.S761delFs
c.2282_2283delAG
2 papers
NM_001199397.3
p.T763P
c.2287A>C
1 paper
NM_001199397.3
p.H769Y
c.2305C>T
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