Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E466A

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.E466A
c.1397A>C
Surrounding Variants
1 paper
NM_001370259.2
p.E466K
c.1396G>A
1 paper
NM_001370259.2
p.E466delins
c.1396_1397delinsGA
1 paper
NM_000244.4
p.A469_E471insFs
c.1406_1413dup8
1 paper
NM_001370259.2
p.A465A
c.1395C>T
1 paper
NM_001370259.2
p.A467fs
c.1399_1400fs
1 paper
NM_001370259.2
p.A467insFs
c.1399_1400insGA
1 paper
NM_001370259.2
p.A467delFs
c.1399delC
1 paper
NM_001370259.2
p.A465_E466ins4
c.1393_1397ins12
1 paper
NM_001370259.2
p.A465fs
c.1393_1394fs
1 paper
NM_001370259.2
p.E468*
c.1402G>T
1 paper
NM_001370259.2
p.A464insFs
c.1391dupC
1 paper
NM_001370259.2
p.A467delFs
c.1400delG
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