Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.L54P

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
5 papers
NM_002755.4
p.L54P
c.161T>C
Surrounding Variants
1 paper
NM_002755.4
p.L54_Q58del0
c.162_173del12
1 paper
NM_002755.4
p.L54F
c.160C>T
1 paper
NM_002755.4
p.L54_T55ins1
c.162_163insAGA
11 papers
NM_002755.4
p.T55P
c.163A>C
1 paper
NM_002755.4
p.T55A
c.163A>G
88 papers
NM_002755.4
p.F53L
c.159T>A
1 paper
NM_002755.4
p.F53F
c.159T>C
87 papers
NM_002755.4
p.F53L
c.159T>G
1 paper
NM_002755.4
p.F53_Q58delins
c.159_174delinsA
1 paper
NM_002755.4
p.L54_Q58del5
c.160_173del15
1 paper
NM_002755.4
p.T55N
c.164C>A
4 papers
NM_002755.4
p.T55_V60del0
c.165_179del15
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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."