Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L168_R171del4

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.L168_R171del4
c.502_512del12
Surrounding Variants
15 papers
NM_001370259.2
p.D172Y
c.514G>T
1 paper
NM_001370259.2
p.D172H
c.514G>C
1 paper
NM_001370259.2
p.D172N
c.514G>A
1 paper
NM_001370259.2
p.R171R
c.513G>C
1 paper
NM_001370259.2
p.R171R
c.513G>A
8 papers
NM_001370259.2
p.D172V
c.515A>T
1 paper
NM_001370259.2
p.R171delFs
c.512delC
1 paper
NM_001370259.2
p.D172E
c.516T>G
1 paper
NM_001370259.2
p.D172E
c.516T>A
2 papers
NM_001370259.2
p.R171L
c.512G>T
1 paper
NM_001370259.2
p.R171P
c.512G>C
66 papers
NM_001370259.2
p.R171Q
c.512G>A
NM_000244.4
p.R176Q
c.527G>A
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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."