Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.E51*

MAP2K1

1,996 papers

RefSeq Summary

The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular sign...

Pfam Domains

Pkinaseaa 46–127UCSCProtein kinase domain
Pkinaseaa 123–313UCSCProtein kinase domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase 1

HGNC Previous Symbol

PRKMK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002755.4
p.E51*
c.151G>T
Surrounding Variants
1 paper
NM_002755.4
p.E51K
c.151G>A
1 paper
NM_002755.4
p.E51fs
c.151_152fs
2 papers
NM_002755.4
p.E51G
c.152A>G
1 paper
NM_002755.4
p.E51V
c.152A>T
1 paper
NM_002755.4
p.E51E
c.153G>A
1 paper
NM_002755.4
p.L50H
c.149T>A
3 papers
NM_002755.4
p.L50P
c.149T>C
1 paper
NM_002755.4
p.L50_E51ins0
c.149_151dupTTG
1 paper
NM_002755.4
p.L50V
c.148C>G
2 papers
NM_002755.4
p.A52P
c.154G>C
1 paper
NM_002755.4
p.R49R
c.147C>A
3 papers
NM_002755.4
p.A52V
c.155C>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."