Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.M239I

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.M239I
c.717G>A
Surrounding Variants
1 paper
NM_001370259.2
p.M239I
c.717G>T
1 paper
NM_001370259.2
p.M239I
c.717G>C
1 paper
NM_001370259.2
p.M239T
c.716T>C
3 papers
NM_001370259.2
p.V240M
c.718G>A
3 papers
NM_001370259.2
p.V240E
c.719T>A
1 paper
NM_001370259.2
p.M239V
c.715A>G
1 paper
NM_000244.4
p.V245delFs
c.734delA
1 paper
NM_001370259.2
p.F238F
c.714C>T
3 papers
NM_001370259.2
p.C241R
c.721T>C
1 paper
NM_001370259.2
p.F238S
c.713T>C
1 paper
NM_001370259.2
p.C241S
c.721T>A
1 paper
NM_001370259.2
p.C241fs
c.721_722fs
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