Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L83fs

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.L83fs
c.247_248fs
Surrounding Variants
1 paper
NM_001370259.2
p.L83M
c.247C>A
2 papers
NM_001370259.2
p.L83P
c.248T>C
1 paper
NM_001370259.2
p.L83Q
c.248T>A
2 papers
NM_001370259.2
p.L83delFs
c.247delG
1 paper
NM_001370259.2
p.D82E
c.246C>G
1 paper
NM_001370259.2
p.D82E
c.246C>A
1 paper
NM_001370259.2
p.D82delFs
c.245delT
1 paper
NM_001370259.2
p.L83L
c.249G>T
6 papers
NM_001370259.2
p.L83fs
c.247_248fs
3 papers
NM_001370259.2
p.L83delFs
c.248delA
1 paper
NM_001370259.2
p.D82A
c.245A>C
1 paper
NM_001370259.2
p.L83ins0
c.247_249dupCTG
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