Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K562N

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.K562N
c.1686G>C
Surrounding Variants
1 paper
NM_001370259.2
p.K562N
c.1686G>T
2 papers
NM_001370259.2
p.K562fs
c.1684_1685fs
1 paper
NM_000244.4
p.K567delFs
c.1700delT
1 paper
NM_001370259.2
p.K562M
c.1685A>T
1 paper
NM_001370259.2
p.K562E
c.1684A>G
1 paper
NM_001370259.2
p.M561delFs
c.1683delC
3 papers
NM_001370259.2
p.G560_M561delFs
c.1680_1683del4
1 paper
NM_001370259.2
p.M561I
c.1683G>T
1 paper
NM_001370259.2
p.M561I
c.1683G>C
1 paper
NM_001370259.2
p.M561I
c.1683G>A
1 paper
NM_001370259.2
p.M561R
c.1682T>G
6 papers
NM_001370259.2
p.M561T
c.1682T>C
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