Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E468_E469delFs

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.E468_E469delFs
c.1402_1405del4
Surrounding Variants
2 papers
NM_001370259.2
p.E469*
c.1405G>T
1 paper
NM_001370259.2
p.E469D
c.1407G>T
1 paper
NM_001370259.2
p.E469D
c.1407G>C
1 paper
NM_001370259.2
p.E469Q
c.1405G>C
1 paper
NM_001370259.2
p.E461_E468delFs
c.1382_1404del23
1 paper
NM_001370259.2
p.E468delFs
c.1402delC
1 paper
NM_001370259.2
p.E468*
c.1402G>T
1 paper
NM_001370259.2
p.A467delFs
c.1400delG
1 paper
NM_001370259.2
p.E468fs
c.1402_1403fs
1 paper
NM_001370262.2
p.W436R
c.1306T>C
1 paper
NM_001370262.2
p.W436R
c.1306T>A
6 papers
NM_001370259.2
p.W471*
c.1412G>A
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."