Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P59A

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.P59A
c.175C>G
Surrounding Variants
1 paper
NM_001370259.2
p.P59S
c.175C>T
1 paper
NM_001370259.2
p.V58delFs
c.174delA
1 paper
NM_001370259.2
p.V58del1
c.172_173delAAC
2 papers
NM_001370259.2
p.V58fs
c.172_173fs
1 paper
NM_001370259.2
p.P55_V58delFs
c.163_173del11
1 paper
NM_001370259.2
p.I54_V58del0
c.162_173del12
2 papers
NM_001370259.2
p.P59L
c.176C>T
1 paper
NM_001370259.2
p.P59R
c.176C>G
1 paper
NM_001370259.2
p.V58G
c.173T>G
1 paper
NM_001370259.2
p.N57_V58delFs
c.171_172delCG
1 paper
NM_001370259.2
p.P59P
c.177C>T
5 papers
NM_001370259.2
p.E60*
c.178G>T
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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."