Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K119K

MEN1

1,357 papers

RefSeq Summary

This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic g...

Pfam Domains

Meninaa 1–146UCSCMenin
Meninaa 1–510UCSCMenin
Meninaa 364–552UCSCMenin
Meninaa 515–608UCSCMenin

Gene Aliases

HGNC Name

menin 1

HGNC Previous Name

multiple endocrine neoplasia I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370259.2
p.K119K
c.357G>A
Surrounding Variants
4 papers
NM_001370259.2
p.K119delFs
c.356delT
1 paper
NM_001370259.2
p.R115_K119delFs
c.343_356del14
1 paper
NM_001370259.2
p.K120fs
c.358_359fs
14 papers
NM_001370259.2
p.K120*
c.358A>T
1 paper
NM_001370259.2
p.K119R
c.356A>G
1 paper
NM_001370259.2
p.K119fs
c.355_356fs
9 papers
NM_001370259.2
p.K119*
c.355A>T
1 paper
NM_001370259.2
p.K120insFs
c.359_360insGT
1 paper
NM_001370259.2
p.L117_V118del2
c.349_353del6
1 paper
NM_001370259.2
p.K120N
c.360G>T
1 paper
NM_001370259.2
p.K120_V121insFs
c.360_361insTG
1 paper
NM_001370259.2
p.K120N
c.360G>C
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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."