Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.S123del1

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.S123del1
c.367_369delTCT
Surrounding Variants
1 paper
NM_002755.4
p.N122K
c.366C>A
1 paper
NM_002755.4
p.N122K
c.366C>G
1 paper
NM_002755.4
p.S123T
c.367T>A
2 papers
NM_002755.4
p.S123P
c.367T>C
1 paper
NM_002755.4
p.S123A
c.367T>G
11 papers
NM_002755.4
p.N122D
c.364A>G
2 papers
NM_002755.4
p.S123F
c.368C>T
4 papers
NM_002755.4
p.P124T
c.370C>A
2 papers
NM_002755.4
p.P124A
c.370C>G
102 papers
NM_002755.4
p.P124S
c.370C>T
1 paper
NM_002755.4
p.P124delins
c.370_371delinsTT
2 papers
NM_002755.4
p.C121Y
c.362G>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."