Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R232L

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.R232L
c.695G>T
Surrounding Variants
1 paper
NM_001370259.2
p.D231insFs
c.693dupC
1 paper
NM_001370259.2
p.R232H
c.695G>A
3 papers
NM_001370259.2
p.R232C
c.694C>T
1 paper
NM_001370259.2
p.D231E
c.693C>G
2 papers
NM_001370259.2
p.D231_R232insFs
c.693_694insG
1 paper
NM_001370259.2
p.D231E
c.693C>A
2 papers
NM_001370259.2
p.D231insFs
c.692_693insT
1 paper
NM_001370259.2
p.D231insFs
c.691dupG
1 paper
NM_001370259.2
p.G225_D231del0
c.674_691del18
4 papers
NM_001370259.2
p.K233insFs
c.698dupA
1 paper
NM_001370259.2
p.D231H
c.691G>C
1 paper
NM_001370259.2
p.R229_C230delFs
c.686_689del4
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