Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K12
Variant:p.H396Q

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.H396Q
c.1188T>G
Surrounding Variants
1 paper
NM_001193511.2
p.H396Q
c.1188T>A
1 paper
NM_001193511.2
p.A400G
c.1199C>G
1 paper
NM_001193511.2
p.Q392H
c.1176G>T
1 paper
NM_001193511.2
p.Q392H
c.1176G>C
1 paper
NM_001193511.2
p.R385Q
c.1154G>A
1 paper
NM_001193511.2
p.Q416_A417Splc
c.1248+2T>C
1 paper
NM_001193511.2
p.L425M
c.1273C>A
1 paper
NM_001193511.2
p.E428K
c.1282G>A
1 paper
NM_001193511.2
p.G434R
c.1300G>A
1 paper
NM_001193511.2
p.L444P
c.1331T>C
1 paper
NM_001193511.2
p.R453Splc
c.1358+38G>C
1 paper
NM_001193511.2
p.E467K
c.1399G>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."