Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S253delFs

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.S253delFs
c.758delG
Surrounding Variants
8 papers
NM_000244.4
p.S258L
c.773C>T
NM_001370259.2
p.S253L
c.758C>T
4 papers
NM_001370259.2
p.S253W
c.758C>G
1 paper
NM_001370259.2
p.L254V
c.760C>G
5 papers
NM_001370259.2
p.S253*
c.758C>A
3 papers
NM_001370259.2
p.S253P
c.757T>C
1 paper
NM_001370259.2
p.L254P
c.761T>C
20 papers
NM_001370259.2
p.L249_D252del4
c.745_755del12
1 paper
NM_130804.3
p.D253_D257delFs
c.759_771del13
1 paper
NM_001370259.2
p.S253fs
c.757_758fs
1 paper
NM_001370259.2
p.E255_L256insC
c.763_767ins3
1 paper
NM_001370259.2
p.E255_L256insCA
c.763_767ins6
1 paper
NM_001370259.2
p.E255_L256ins4
c.763_767ins12
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."