Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K496_A510delFs

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.K496_A510delFs
c.1487_1529del43
Surrounding Variants
1 paper
NM_130802.3
p.V516insFs
c.1547_1548insC
2 papers
NM_001370259.2
p.G509_A510del2
c.1525_1529del6
1 paper
NM_001370259.2
p.G503_A510del8
c.1507_1529del24
2 papers
NM_000244.4
p.V516insFs
c.1546_1547insC
1 paper
NM_001370259.2
p.A510delFs
c.1529_1530delTG
1 paper
NM_001370259.2
p.A510_S512delFs
c.1528_1534del7
1 paper
NM_001370259.2
p.S512_G513insFs
c.1536_1537insG
1 paper
NM_001370259.2
p.A510fs
c.1528_1529fs
2 papers
NM_001370259.2
p.G509insFs
c.1525_1526insG
2 papers
NM_000244.4
p.Q513delFs
c.1539delC
NM_001370259.2
p.G509delFs
c.1526delC
1 paper
NM_001370259.2
p.G509insFs
c.1525_1526insC
1 paper
NM_001370259.2
p.T506_Q508del3
c.1516_1523del9
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