Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W183R

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
6 papers
NM_001370259.2
p.W183R
c.547T>C
Surrounding Variants
2 papers
NM_001370259.2
p.W183G
c.547T>G
6 papers
NM_001370259.2
p.W183R
c.547T>A
2 papers
NM_001370259.2
p.A182delFs
c.546delG
19 papers
NM_001370259.2
p.W183S
c.548G>C
23 papers
NM_001370259.2
p.W183*
c.548G>A
NM_000244.4
p.W188*
c.563G>A
1 paper
NM_001370259.2
p.W183delFs
c.547delA
1 paper
NM_001370259.2
p.A182delFs
c.544_545delGC
10 papers
NM_001370259.2
p.W183C
c.549G>T
10 papers
NM_001370259.2
p.W183C
c.549G>C
21 papers
NM_001370259.2
p.W183*
c.549G>A
3 papers
NM_001370259.2
p.A182V
c.545C>T
1 paper
NM_001370259.2
p.A182insFs
c.545_546insT
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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."