Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L27_E30delFs

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
2 papers
NM_001370259.2
p.L27_E30delFs
c.79_88del10
Surrounding Variants
2 papers
NM_001370259.2
p.E30G
c.89A>G
1 paper
NM_001370259.2
p.E30insFs
c.89_90insC
1 paper
NM_001370259.2
p.A25_E30del0
c.74_88del15
1 paper
NM_001370259.2
p.F23_E30delFs
c.69_88del20
7 papers
NM_001370259.2
p.E30*
c.88G>T
1 paper
NM_001370259.2
p.E30D
c.90G>T
1 paper
NM_001370259.2
p.E30insFs
c.89dupA
1 paper
NM_001370259.2
p.E30D
c.90G>C
1 paper
NM_001370259.2
p.E30K
c.88G>A
1 paper
NM_001370259.2
p.R29delFs
c.87delT
1 paper
NM_001370259.2
p.E30fs
c.88_89fs
1 paper
NM_001370259.2
p.E31K
c.91G>A
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