Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.K48N

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
1 paper
NM_002755.4
p.K48N
c.144G>C
Surrounding Variants
1 paper
NM_002755.4
p.K48N
c.144G>T
1 paper
NM_002755.4
p.K48R
c.143A>G
14 papers
NM_002755.4
p.R49C
c.145C>T
6 papers
NM_002755.4
p.R49H
c.146G>A
5 papers
NM_002755.4
p.R49L
c.146G>T
1 paper
NM_002755.4
p.R49R
c.147C>A
1 paper
NM_002755.4
p.L50_E51ins0
c.149_151dupTTG
1 paper
NM_002755.4
p.L50V
c.148C>G
13 papers
NM_002755.4
p.R47Q
c.140G>A
1 paper
NM_002755.4
p.R47G
c.139C>G
2 papers
NM_002755.4
p.R47*
c.139C>T
1 paper
NM_002755.4
p.L50H
c.149T>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."