Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F416L

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
2 papers
NM_001370259.2
p.F416L
c.1248C>G
Surrounding Variants
1 paper
NM_001370259.2
p.F416insFs
c.1247dupT
2 papers
NM_001370259.2
p.F416L
c.1248C>A
1 paper
NM_001370259.2
p.F416delFs
c.1247delA
1 paper
NM_001370259.2
p.Y417N
c.1249T>A
2 papers
NM_001370259.2
p.F416L
c.1246T>C
1 paper
NM_001370259.2
p.Y417F
c.1250A>T
1 paper
NM_001370259.2
p.Y417*
c.1251C>G
1 paper
NM_001370259.2
p.Y417*
c.1251C>A
6 papers
NM_001370259.2
p.D418Y
c.1252G>T
1 paper
NM_001370259.2
p.R415L
c.1244G>T
11 papers
NM_001370259.2
p.D418H
c.1252G>C
4 papers
NM_001370259.2
p.R415P
c.1244G>C
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