Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.Q58H

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.Q58H
c.174G>C
Surrounding Variants
1 paper
NM_002755.4
p.K59insFs
c.175dupA
3 papers
NM_002755.4
p.Q58H
c.174G>T
7 papers
NM_002755.4
p.Q58P
c.173A>C
1 paper
NM_002755.4
p.Q58R
c.173A>G
2 papers
NM_002755.4
p.Q58L
c.173A>T
1 paper
NM_002755.4
p.K59R
c.176A>G
3 papers
NM_002755.4
p.V60del1
c.178_179delGTG
1 paper
NM_002755.4
p.Q58K
c.172C>A
2 papers
NM_002755.4
p.Q58*
c.172C>T
1 paper
NM_002755.4
p.Q58fs
c.172_173fs
9 papers
NM_002755.4
p.K59del1
c.175_176delAAG
1 paper
NM_002755.4
p.Q58_G61delFs
c.173_182del10
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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."