Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.D18N

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.D18N
c.52G>A
Surrounding Variants
1 paper
NM_001370259.2
p.D18Y
c.52G>T
1 paper
NM_001370259.2
p.D17delFs
c.51delG
1 paper
NM_001370259.2
p.I16_D17del2
c.46_50del6
1 paper
NM_001370259.2
p.Q7_D18delFs
c.19_52del34
3 papers
NM_001370259.2
p.D17_D18delFs
c.50_53del4
1 paper
NM_001370259.2
p.D17G
c.50A>G
1 paper
NM_001370259.2
p.D17insFs
c.49dupG
2 papers
NM_001370259.2
p.V19L
c.55G>T
3 papers
NM_001370259.2
p.V19L
c.55G>C
2 papers
NM_001370259.2
p.V19M
c.55G>A
1 paper
NM_001370259.2
p.D17N
c.49G>A
2 papers
NM_001370259.2
p.V19fs
c.55_56fs
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."