Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R218_S219Splc

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.R218_S219Splc
c.655-6C>G
NM_000244.4
p.R223_S224Splc
c.670-6C>G
Surrounding Variants
4 papers
NM_001370259.2
p.R218_S219Splc
c.655-6C>T
2 papers
NM_001370259.2
p.R218_S219Splc
c.655-6C>A
5 papers
NM_001370259.2
p.R218_S219Splc
c.655-7C>A
1 paper
NM_001370259.2
p.R218_S219Splc
c.655-3A>G
3 papers
NM_001370259.2
p.R218_S219Splc
c.655-2A>G
2 papers
NM_001370259.2
p.R218_S219Splc
c.655-1G>T
7 papers
NM_001370259.2
p.R218_S219Splc
c.655-1G>A
1 paper
NM_001370259.2
p.S219I
c.656G>T
1 paper
NM_001370259.2
p.S219T
c.656G>C
1 paper
NM_001370259.2
p.S219delFs
c.656delC
1 paper
NM_001370259.2
p.W220G
c.658T>G
10 papers
NM_001370259.2
p.W220R
c.658T>C
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