Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K12
Variant:p.D347insFs

MAP3K12

136 papers

RefSeq Summary

This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of th...

Pfam Domains

PK_Tyr_Ser-Thraa 127–364UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 12

HGNC Previous Symbol

ZPK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001193511.2
p.D347insFs
c.1040_1041insT
Surrounding Variants
1 paper
NM_001193511.2
p.N358insFs
c.1072_1073insT
1 paper
NM_001193511.2
p.P365insFs
c.1093_1094insG
1 paper
NM_001193511.2
p.R377C
c.1129C>T
1 paper
NM_001193511.2
p.E322K
c.964G>A
1 paper
NM_001193511.2
p.T306S
c.916A>T
2 papers
NM_001193511.2
p.S302A
c.904T>G
1 paper
NM_001193511.2
p.K284K
c.852G>A
1 paper
NM_001193511.2
p.V282E
c.845T>A
1 paper
NM_001193511.2
p.T278A
c.832A>G
1 paper
NM_001193511.2
p.N274Splc
c.822-2A>G
1 paper
NM_001193511.2
p.R385Q
c.1154G>A
1 paper
NM_001193511.2
p.Q392H
c.1176G>T
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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."