Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E179_H181delFs

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.E179_H181delFs
c.537_541del5
Surrounding Variants
2 papers
NM_001370259.2
p.H181R
c.542A>G
1 paper
NM_001370259.2
p.D180_H181Fs
c.540_541delinsTFs
3 papers
NM_001370259.2
p.H181D
c.541C>G
1 paper
NM_001370259.2
p.D180_H181insFs
c.540_541insTT
1 paper
NM_001370259.2
p.D180E
c.540T>G
1 paper
NM_001370259.2
p.D180E
c.540T>A
1 paper
NM_001370259.2
p.A176_D180delFs
c.527_539del13
1 paper
NM_001370259.2
p.A182S
c.544G>T
1 paper
NM_001370259.2
p.A182_W183insG
c.544_548ins3
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
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."