Varaico: Literature-Extracted Genetic Variants

Gene:MEN1

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
1–12 of 3019 variants
72 papers
NM_001370259.2
p.R460*
c.1378C>T
64 papers
NM_001370259.2
p.R171Q
c.512G>A
59 papers
NM_001370259.2
p.L83_S84delFs
c.249_252del4
51 papers
NM_001370259.2
p.K119del1
c.355_356delCTT
51 papers
NM_001370259.2
p.R415*
c.1243C>T
48 papers
NM_001370259.2
p.R527*
c.1579C>T
45 papers
NM_001370259.2
p.D418N
c.1252G>A
45 papers
NM_001370259.2
p.R516insFs
c.1546_1547insC
43 papers
NM_001370259.2
p.L22R
c.65T>G
42 papers
NM_001370259.2
p.A242V
c.725C>T
39 papers
NM_001370259.2
p.R98*
c.292C>T
38 papers
NM_001370259.2
p.H139D
c.415C>G
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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."