Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L413delFs

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.L413delFs
c.1239delC
Surrounding Variants
9 papers
NM_001370259.2
p.L414P
c.1241T>C
2 papers
NM_001370259.2
p.L414Q
c.1241T>A
8 papers
NM_001370259.2
p.L413R
c.1238T>G
4 papers
NM_001370259.2
p.L413P
c.1238T>C
1 paper
NM_001370259.2
p.L414L
c.1242G>T
52 papers
NM_001370259.2
p.R415*
c.1243C>T
NM_000244.4
p.R420*
c.1258C>T
1 paper
NM_001370259.2
p.R415L
c.1244G>T
4 papers
NM_001370259.2
p.R415P
c.1244G>C
1 paper
NM_001370259.2
p.R415Q
c.1244G>A
10 papers
NM_001370259.2
p.L414del1
c.1240_1241delCAG
NM_000244.4
p.L414_R415del1
c.1241_1243delGCA
1 paper
NM_001370259.2
p.H412insFs
c.1235dupA
2 papers
NM_001370259.2
p.F416L
c.1246T>C
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