Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L249delFs

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
4 papers
NM_001370259.2
p.L249delFs
c.746delA
Surrounding Variants
1 paper
NM_001370259.2
p.L249insFs
c.746dupT
5 papers
NM_001370259.2
p.L249P
c.746T>C
1 paper
NM_001370259.2
p.N244_L249del0
c.731_745del15
1 paper
NM_001370259.2
p.H250Y
c.748C>T
1 paper
NM_001370259.2
p.L249delFs
c.747delC
1 paper
NM_001370259.2
p.H250fs
c.748_749fs
1 paper
NM_001370259.2
p.L249insFs
c.745_746insA
1 paper
NM_001370259.2
p.T251_D252insC
c.751_755ins3
1 paper
NM_001370259.2
p.T251_D252insGA
c.751_755ins6
1 paper
NM_001370259.2
p.D248delFs
c.742delC
1 paper
NM_001370259.2
p.H250delFs
c.750delG
1 paper
NM_001370259.2
p.L249_H250del2
c.745_749del6
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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."