Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.V550fs

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.V550fs
c.1648_1649fs
Surrounding Variants
2 papers
NM_001370259.2
p.V550L
c.1648G>T
2 papers
NM_001370259.2
p.V550L
c.1648G>C
1 paper
NM_001370259.2
p.G548_V550insFs
c.1642_1648dup7
2 papers
NM_001370259.2
p.V550insFs
c.1649_1650insC
1 paper
NM_001370259.2
p.P549delFs
c.1646delG
20 papers
NM_001370259.2
p.V550_L551insFs
c.1650_1651insC
2 papers
NM_001370259.2
p.P549S
c.1645C>T
1 paper
NM_001370259.2
p.E547_V550del4
c.1639_1649del12
1 paper
NM_001370259.2
p.P549fs
c.1645_1646fs
6 papers
NM_001370259.2
p.T552S
c.1654A>T
NM_000244.4
p.T557S
c.1669A>T
1 paper
NM_001370259.2
p.T552A
c.1654A>G
1 paper
NM_001370259.2
p.E547E
c.1641G>A
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