Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E477*

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
3 papers
NM_001370259.2
p.E477*
c.1429G>T
Surrounding Variants
1 paper
NM_001370259.2
p.R476R
c.1428G>T
1 paper
NM_001370259.2
p.E477insFs
c.1429_1430ins4
1 paper
NM_001370259.2
p.A462_E477del16
c.1384_1430del48
3 papers
NM_001370259.2
p.G478G
c.1434C>T
1 paper
NM_001370259.2
p.G478delFs
c.1432_1433delCC
4 papers
NM_001370259.2
p.E474_A475insFs
c.1422_1423insA
1 paper
NM_001370259.2
p.R479W
c.1435C>T
1 paper
NM_001370259.2
p.G478delFs
c.1434delG
1 paper
NM_001370259.2
p.E474Fs
c.1421delinsCGFs
3 papers
NM_001370259.2
p.E473delFs
c.1419delC
2 papers
NM_001370259.2
p.E474*
c.1420G>T
1 paper
NM_001370259.2
p.E474Q
c.1420G>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."