Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L103fs

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.L103fs
c.307_308fs
Surrounding Variants
1 paper
NM_001370259.2
p.L103insFs
c.307_308ins7
2 papers
NM_001370259.2
p.L103M
c.307C>A
1 paper
NM_001370259.2
p.L103R
c.308T>G
10 papers
NM_001370259.2
p.L103delFs
c.307delG
2 papers
NM_001370259.2
p.L103fs
c.307_308fs
1 paper
NM_001370259.2
p.D102G
c.305A>G
1 paper
NM_001370259.2
p.S104ins1
c.310_311insGTT
2 papers
NM_001370259.2
p.L103insFs
c.309dupG
1 paper
NM_001370259.2
p.S104A
c.310T>G
1 paper
NM_001370259.2
p.S104P
c.310T>C
1 paper
NM_001370259.2
p.L103delFs
c.309delC
1 paper
NM_001370259.2
p.I97_L103del0
c.289_309del21
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