Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S178F

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.S178F
c.533C>T
Surrounding Variants
2 papers
NM_001370259.2
p.S178C
c.533C>G
1 paper
NM_001370259.2
p.S178insFs
c.532dupT
4 papers
NM_001370259.2
p.S178Y
c.533C>A
1 paper
NM_001370259.2
p.S178insFs
c.533dupC
1 paper
NM_001370259.2
p.S178P
c.532T>C
1 paper
NM_001370259.2
p.E179*
c.535G>T
1 paper
NM_001370259.2
p.S178insFs
c.534dupT
3 papers
NM_001370259.2
p.E179Q
c.535G>C
5 papers
NM_001370259.2
p.E179K
c.535G>A
3 papers
NM_001370259.2
p.L177L
c.531G>A
1 paper
NM_001370259.2
p.L177delFs
c.530delA
1 paper
NM_001370259.2
p.L177delFs
c.529_530delAG
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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."