Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A464fs

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
3 papers
NM_001370259.2
p.A464fs
c.1390_1391fs
Surrounding Variants
1 paper
NM_001370259.2
p.A464S
c.1390G>T
1 paper
NM_001370259.2
p.A464Fs
c.1390delinsCCTFs
2 papers
NM_001370259.2
p.E461_E463insFs
c.1382_1389dup8
1 paper
NM_001370259.2
p.A464insFs
c.1390dupG
1 paper
NM_001370259.2
p.E461_A464ins1
c.1382_1390dup9
1 paper
NM_001370259.2
p.A464delFs
c.1390delC
1 paper
NM_000244.4
p.E468_A469delFs
c.1402_1405del4
1 paper
NM_001370259.2
p.A464insFs
c.1391dupC
1 paper
NM_001370259.2
p.A464delFs
c.1391delG
3 papers
NM_000244.4
p.E468*
c.1402G>T
NM_001370259.2
p.E463*
c.1387G>T
1 paper
NM_001370259.2
p.A465_E466ins4
c.1393_1397ins12
1 paper
NM_001370259.2
p.A465fs
c.1393_1394fs
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