Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.I125L

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.I125L
c.373A>C
Surrounding Variants
1 paper
NM_001370259.2
p.I125L
c.373A>T
1 paper
NM_001370259.2
p.I125ins6
c.373_374ins18
1 paper
NM_001370259.2
p.V124delFs
c.371_372delGA
4 papers
NM_001370259.2
p.I125insFs
c.373_374insA
1 paper
NM_001370259.2
p.I125T
c.374T>C
1 paper
NM_001370259.2
p.K120_I125delFs
c.360_373del14
1 paper
NM_001370259.2
p.K119_V124del6
c.355_371del18
1 paper
NM_001370259.2
p.V124A
c.371T>C
1 paper
NM_001370259.2
p.I125I
c.375A>T
1 paper
NM_001370259.2
p.I125M
c.375A>G
1 paper
NM_001370259.2
p.I125delFs
c.374delA
1 paper
NM_001370259.2
p.I125_W126insFs
c.375_376insAA
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