Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G225_R229del5

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.G225_R229del5
c.673_686del15
Surrounding Variants
2 papers
NM_001370259.2
p.C230R
c.688T>C
NM_000244.4
p.C235R
c.703T>C
2 papers
NM_001370259.2
p.C230F
c.689G>T
1 paper
NM_001370259.2
p.R229_C230delFs
c.687_688delAG
1 paper
NM_001370259.2
p.R229_C230delFs
c.685_688del4
1 paper
NM_001370259.2
p.R229_C230delFs
c.686_689del4
5 papers
NM_001370259.2
p.R229L
c.686G>T
2 papers
NM_001370259.2
p.R229H
c.686G>A
1 paper
NM_001370259.2
p.D231H
c.691G>C
4 papers
NM_001370259.2
p.R229C
c.685C>T
1 paper
NM_001370259.2
p.R229insFs
c.685_686insG
1 paper
NM_001370259.2
p.M228I
c.684G>T
1 paper
NM_000244.4
p.M233insFs
c.698dupT
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