Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S226*

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
2 papers
NM_001370259.2
p.S226*
c.677C>G
Surrounding Variants
2 papers
NM_001370259.2
p.S226*
c.677C>A
1 paper
NM_000244.4
p.G230delFs
c.690delT
5 papers
NM_001370259.2
p.Y227insFs
c.679_680insAG
1 paper
NM_000244.4
p.G230fs
c.688_689fs
3 papers
NM_001370259.2
p.G225delFs
c.674delC
2 papers
NM_001370259.2
p.G225V
c.674G>T
2 papers
NM_001370259.2
p.G225_S226insT
c.673_677ins3
11 papers
NM_001370259.2
p.G225R
c.673G>C
11 papers
NM_001370259.2
p.G225R
c.673G>A
11 papers
NM_001370259.2
p.Y227*
c.681C>G
1 paper
NM_001370259.2
p.Y227_M228insFs
c.681_682insT
1 paper
NM_001370259.2
p.Y227_M228insFs
c.681_682insGG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."