Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.T76fs

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.T76fs
c.226_227fs
Surrounding Variants
1 paper
NM_001370259.2
p.T76S
c.226A>T
1 paper
NM_001370259.2
p.D70_L75delFs
c.210_225del16
1 paper
NM_001370259.2
p.T76I
c.227C>T
1 paper
NM_001370259.2
p.T76S
c.227C>G
1 paper
NM_001370259.2
p.L75L
c.225C>G
2 papers
NM_001370259.2
p.L75_T76insFs
c.225_226insT
1 paper
NM_001370259.2
p.T76N
c.227C>A
1 paper
NM_001370259.2
p.L75R
c.224T>G
1 paper
NM_001370259.2
p.L75delFs
c.223delG
1 paper
NM_001370259.2
p.G74_L75delins
c.221_224delinsC
1 paper
NM_001370259.2
p.T76T
c.228C>T
1 paper
NM_001370259.2
p.G73_T76Fs
c.218_228delinsCCTFs
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