Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.V53_P55del3

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.V53_P55del3
c.157_164del9
Surrounding Variants
1 paper
NM_001370259.2
p.T56fs
c.166_167fs
1 paper
NM_001370259.2
p.P55delFs
c.165delA
4 papers
NM_001370259.2
p.V53_P55delFs
c.159_165del7
1 paper
NM_001370259.2
p.P55_T56insFs
c.165_166insG
1 paper
NM_001370259.2
p.P55insFs
c.164dupC
2 papers
NM_001370259.2
p.P55Fs
c.165delinsGGFs
1 paper
NM_001370259.2
p.P55delFs
c.164delG
1 paper
NM_001370259.2
p.T56I
c.167C>T
1 paper
NM_001370259.2
p.T56insFs
c.166_167insA
1 paper
NM_001370259.2
p.P55L
c.164C>T
2 papers
NM_001370259.2
p.T56fs
c.166_167fs
1 paper
NM_001370259.2
p.L39_P55delFs
c.115_163del49
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