Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G503_L504insA

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.G503_L504insA
c.1507_1511ins3
Surrounding Variants
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
14 papers
NM_001370259.2
p.G503D
c.1508G>A
1 paper
NM_000244.4
p.K507delFs
c.1520delT
1 paper
NM_001370259.2
p.G503_L504insFs
c.1509_1510insGA
4 papers
NM_001370259.2
p.K502M
c.1505A>T
1 paper
NM_001370259.2
p.L504fs
c.1510_1511fs
1 paper
NM_000244.4
p.K507fs
c.1519_1520fs
1 paper
NM_000244.4
p.L509insFs
c.1525_1526insG
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