Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.I140V

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.I140V
c.418A>G
Surrounding Variants
1 paper
NM_001370259.2
p.I140F
c.418A>T
1 paper
NM_001370259.2
p.H139delFs
c.417delG
1 paper
NM_001370259.2
p.K135_I140del0
c.404_418del15
4 papers
NM_001370259.2
p.H139Q
c.417C>G
1 paper
NM_001370259.2
p.H139fs
c.415_416fs
4 papers
NM_001370259.2
p.H139Q
c.417C>A
1 paper
NM_001370259.2
p.H139delFs
c.416delT
1 paper
NM_001370259.2
p.I140delFs
c.419delA
3 papers
NM_001370259.2
p.H139L
c.416A>T
14 papers
NM_001370259.2
p.H139R
c.416A>G
5 papers
NM_001370259.2
p.H139P
c.416A>C
2 papers
NM_001370259.2
p.H139delFs
c.415delG
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