Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E235K

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
9 papers
NM_001370259.2
p.E235K
c.703G>A
NM_000244.4
p.E240K
c.718G>A
Surrounding Variants
1 paper
NM_001370259.2
p.M234I
c.702G>T
1 paper
NM_001370259.2
p.M234I
c.702G>C
1 paper
NM_001370259.2
p.M234I
c.702G>A
1 paper
NM_001370259.2
p.K233_M234delFs
c.698_701del4
1 paper
NM_001370259.2
p.M234insFs
c.700dupA
2 papers
NM_001370259.2
p.M234L
c.700A>T
2 papers
NM_001370259.2
p.M234L
c.700A>C
1 paper
NM_001370259.2
p.K233delFs
c.699delC
4 papers
NM_001370259.2
p.K233insFs
c.698dupA
6 papers
NM_001370259.2
p.A237V
c.710C>T
NM_000244.4
p.A242V
c.725C>T
1 paper
NM_001370259.2
p.A237insFs
c.710_711insAC
1 paper
NM_001370259.2
p.R232L
c.695G>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."