Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.F53L

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
88 papers
NM_002755.4
p.F53L
c.157T>C
Surrounding Variants
14 papers
NM_002755.4
p.F53I
c.157T>A
18 papers
NM_002755.4
p.F53V
c.157T>G
2 papers
NM_002755.4
p.L54del1
c.160_161delCTT
2 papers
NM_002755.4
p.F53del1
c.157_158delTTT
1 paper
NM_002755.4
p.F53_L54del2
c.157_161del6
1 paper
NM_002755.4
p.F53_K57del0
c.157_171del15
1 paper
NM_002755.4
p.F53_Q58del6
c.157_173del18
11 papers
NM_002755.4
p.F53Y
c.158T>A
39 papers
NM_002755.4
p.F53S
c.158T>C
17 papers
NM_002755.4
p.F53C
c.158T>G
1 paper
NM_002755.4
p.F53_Q56del0
c.159_167del9
1 paper
NM_002755.4
p.F53_Q58Fs
c.159_173delinsAFs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."