Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R527_A535del9

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.R527_A535del9
c.1579_1604del27
Surrounding Variants
6 papers
NM_001370259.2
p.Q536delFs
c.1607delT
10 papers
NM_001370259.2
p.Q536*
c.1606C>T
2 papers
NM_001370259.2
p.G532_A535del4
c.1594_1604del12
3 papers
NM_001370259.2
p.V537L
c.1609G>T
1 paper
NM_001370259.2
p.V537L
c.1609G>C
1 paper
NM_001370259.2
p.V537G
c.1610T>G
4 papers
NM_001370259.2
p.A535V
c.1604C>T
1 paper
NM_001370259.2
p.T534R
c.1601C>G
1 paper
NM_001370259.2
p.T534S
c.1600A>T
1 paper
NM_001370259.2
p.P538delFs
c.1613delG
1 paper
NM_000244.4
p.A544insFs
c.1630_1631insC
1 paper
NM_000244.4
p.A544P
c.1630G>C
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