Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G28_V40del0

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.G28_V40del0
c.83_118del36
Surrounding Variants
1 paper
NM_001370259.2
p.V40A
c.119T>C
1 paper
NM_001370259.2
p.L39_V40delFs
c.117_118delCC
3 papers
NM_001370259.2
p.V40M
c.118G>A
1 paper
NM_001370259.2
p.V40delFs
c.119delA
1 paper
NM_001370259.2
p.L39fs
c.115_116fs
1 paper
NM_001370259.2
p.L39L
c.117G>A
1 paper
NM_001370259.2
p.L41fs
c.121_122fs
1 paper
NM_001370259.2
p.V40delFs
c.120delC
15 papers
NM_001370259.2
p.L39W
c.116T>G
1 paper
NM_001370259.2
p.L41R
c.122T>G
2 papers
NM_001370259.2
p.L41P
c.122T>C
1 paper
NM_001370259.2
p.L39V
c.115T>G
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