Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S543L

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
5 papers
NM_001370259.2
p.S543L
c.1628C>T
Surrounding Variants
3 papers
NM_001370259.2
p.S543*
c.1628C>G
3 papers
NM_001370259.2
p.S543*
c.1628C>A
2 papers
NM_001370259.2
p.S543A
c.1627T>G
1 paper
NM_001370259.2
p.S543delFs
c.1628delG
2 papers
NM_001370259.2
p.P544S
c.1630C>T
1 paper
NM_001370259.2
p.V537_T541del5
c.1609_1622del15
1 paper
NM_001370259.2
p.A542T
c.1624G>A
5 papers
NM_001370259.2
p.P544insFs
c.1630_1631insC
2 papers
NM_001370259.2
p.P545S
c.1633C>T
1 paper
NM_001370259.2
p.P545_P546ins11
c.1633_1637ins33
1 paper
NM_001370259.2
p.T541_A542insFs
c.1623_1624insT
1 paper
NM_001370259.2
p.P545L
c.1634C>T
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