Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E547E

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.E547E
c.1641G>A
Surrounding Variants
1 paper
NM_001370259.2
p.E547G
c.1640A>G
1 paper
NM_001370259.2
p.E547*
c.1639G>T
1 paper
NM_001370259.2
p.P544_P545del2
c.1630_1634del6
2 papers
NM_001370259.2
p.P549S
c.1645C>T
1 paper
NM_001370259.2
p.P549fs
c.1645_1646fs
2 papers
NM_000244.4
p.P550_P551insFs
c.1650_1651insG
NM_001370259.2
p.P546insFs
c.1636_1637insG
2 papers
NM_001370259.2
p.P545_P546insFs
c.1635_1636insC
NM_000244.4
p.P550_P551insFs
c.1650_1651insC
1 paper
NM_001370259.2
p.P545P
c.1635G>A
1 paper
NM_001370259.2
p.P549delFs
c.1646delG
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.V550fs
c.1648_1649fs
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