Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L509M

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_000244.4
p.L509M
c.1525C>A
NM_001370259.2
p.L504M
c.1510C>A
Surrounding Variants
1 paper
NM_001370259.2
p.L504fs
c.1510_1511fs
1 paper
NM_000244.4
p.L509insFs
c.1525_1526insG
1 paper
NM_001370259.2
p.P493_G503del11
c.1477_1508del33
1 paper
NM_001370259.2
p.G503_L504insFs
c.1509_1510insGA
14 papers
NM_001370259.2
p.G503D
c.1508G>A
1 paper
NM_001370259.2
p.G503_L504insA
c.1507_1511ins3
1 paper
NM_001370259.2
p.P495_L504del10
c.1483_1511del30
1 paper
NM_001370259.2
p.P492_K502del11
c.1474_1505del33
1 paper
NM_001370259.2
p.K502N
c.1506G>T
1 paper
NM_001370259.2
p.K502fs
c.1504_1505fs
1 paper
NM_001370259.2
p.K502insFs
c.1505dupA
1 paper
NM_001370259.2
p.K502N
c.1506G>C
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