Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A182_W183insG

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.A182_W183insG
c.544_548ins3
Surrounding Variants
1 paper
NM_001370259.2
p.A182S
c.544G>T
1 paper
NM_001370259.2
p.A182P
c.544G>C
1 paper
NM_001370259.2
p.A182T
c.544G>A
3 papers
NM_001370259.2
p.A182V
c.545C>T
1 paper
NM_001370259.2
p.A182insFs
c.545_546insT
2 papers
NM_000244.4
p.A187insFs
c.559dupG
NM_001370259.2
p.A182insFs
c.544dupG
1 paper
NM_001370259.2
p.A182insFs
c.545_546ins11
1 paper
NM_001370259.2
p.A182D
c.545C>A
1 paper
NM_001370259.2
p.A182delFs
c.544_545delGC
2 papers
NM_001370259.2
p.H181R
c.542A>G
1 paper
NM_001370259.2
p.D180_H181Fs
c.540_541delinsTFs
1 paper
NM_001370259.2
p.E179_H181delFs
c.537_541del5
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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."