Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.M558K

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
3 papers
NM_001370259.2
p.M558K
c.1673T>A
Surrounding Variants
1 paper
NM_001370259.2
p.M558delFs
c.1672delT
2 papers
NM_001370259.2
p.K557del1
c.1669_1670delCTT
2 papers
NM_001370259.2
p.K557fs
c.1669_1670fs
NM_000244.4
p.K562fs
c.1684_1685fs
3 papers
NM_001370259.2
p.K559*
c.1675A>T
1 paper
NM_001370259.2
p.K559insFs
c.1676_1677insG
1 paper
NM_000244.4
p.Q559_K562insFs
c.1677_1684dup8
3 papers
NM_001370259.2
p.M558_K559del1
c.1673_1675delTCA
1 paper
NM_001370259.2
p.T552_E556del5
c.1654_1667del15
3 papers
NM_001370259.2
p.K559delFs
c.1676delT
1 paper
NM_001370259.2
p.K557fs
c.1669_1670fs
2 papers
NM_001370259.2
p.K557*
c.1669A>T
1 paper
NM_001370259.2
p.K557E
c.1669A>G
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