Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.N189fs

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
2 papers
NM_001370259.2
p.N189fs
c.565_566fs
Surrounding Variants
3 papers
NM_001370259.2
p.P188delFs
c.562delG
1 paper
NM_001370259.2
p.P188delFs
c.563_564delGG
1 paper
NM_001370259.2
p.P188fs
c.562_563fs
5 papers
NM_001370259.2
p.N189S
c.566A>G
1 paper
NM_001370259.2
p.N189T
c.566A>C
2 papers
NM_001370259.2
p.N189K
c.567T>G
2 papers
NM_001370259.2
p.N189K
c.567T>A
1 paper
NM_001370259.2
p.N189delFs
c.566delT
11 papers
NM_001370259.2
p.P188L
c.563C>T
1 paper
NM_001370259.2
p.G190W
c.568G>T
1 paper
NM_001370259.2
p.G190R
c.568G>C
1 paper
NM_001370259.2
p.G190R
c.568G>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."