Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L175_A176insFs

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.L175_A176insFs
c.525_526insA
Surrounding Variants
2 papers
NM_001370259.2
p.L175L
c.525C>T
2 papers
NM_001370259.2
p.L175L
c.525C>G
2 papers
NM_001370259.2
p.L175_A176insFs
c.525_526insTT
1 paper
NM_001370259.2
p.L175L
c.525C>A
1 paper
NM_130804.3
p.R176_L180delFs
c.527_539del13
1 paper
NM_001370259.2
p.H174_L175insFs
c.522_523insC
6 papers
NM_001370259.2
p.L175R
c.524T>G
4 papers
NM_001370259.2
p.L175P
c.524T>C
1 paper
NM_001370259.2
p.L175H
c.524T>A
2 papers
NM_001370259.2
p.H174delFs
c.522delG
1 paper
NM_001370259.2
p.A167_L175delFs
c.499_523del25
5 papers
NM_001370259.2
p.A176S
c.526G>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."