Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L22R

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
43 papers
NM_001370259.2
p.L22R
c.65T>G
Surrounding Variants
5 papers
NM_001370259.2
p.L22P
c.65T>C
2 papers
NM_001370259.2
p.L22L
c.64C>T
1 paper
NM_001370259.2
p.L22V
c.64C>G
1 paper
NM_001370259.2
p.L22M
c.64C>A
2 papers
NM_001370259.2
p.F23fs
c.67_68fs
1 paper
NM_001370259.2
p.R21R
c.63C>T
1 paper
NM_001370259.2
p.R21delFs
c.62delC
2 papers
NM_001370259.2
p.F23C
c.68T>G
1 paper
NM_001370259.2
p.V19_F23Fs
c.56_68delinsGGFs
2 papers
NM_001370259.2
p.R21L
c.62G>T
3 papers
NM_001370259.2
p.R21H
c.62G>A
1 paper
NM_001370259.2
p.R21C
c.61C>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."