Varaico: Literature-Extracted Genetic Variants

Gene:EEF2K
Variant:p.W99*

EEF2K

101 papers

RefSeq Summary

This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regula...

Pfam Domains

Alpha_kinaseaa 139–318UCSCAlpha-kinase family

Gene Aliases

HGNC Name

eukaryotic elongation factor 2 kinase

HGNC Alias Symbols

eEF-2K; CaMKIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013302.5
p.W99*
c.296G>A
Surrounding Variants
2 papers
NM_013302.5
p.W99*
c.297G>A
2 papers
NM_013302.5
p.Q90*
c.268C>T
1 paper
NM_013302.5
p.W85G
c.253T>G
1 paper
NM_013302.5
p.R116Splc
c.348-25C>T
1 paper
NM_013302.5
p.M143T
c.428T>C
1 paper
NM_013302.5
p.R148Q
c.443G>A
1 paper
NM_013302.5
p.G163S
c.487G>A
2 papers
NM_013302.5
p.A164T
c.490G>A
1 paper
NM_013302.5
p.V168M
c.502G>A
1 paper
NM_013302.5
p.K170R
c.509A>G
2 papers
NM_013302.5
p.K170M
c.509A>T
1 paper
NM_013302.5
p.V185M
c.553G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."