Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.D153E

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
3 papers
NM_001370259.2
p.D153E
c.459C>A
Surrounding Variants
3 papers
NM_001370259.2
p.D153E
c.459C>G
1 paper
NM_001370259.2
p.D153fs
c.457_458fs
7 papers
NM_001370259.2
p.D153V
c.458A>T
1 paper
NM_001370259.2
p.D153A
c.458A>C
1 paper
NM_001370259.2
p.D153delFs
c.457delC
3 papers
NM_001370259.2
p.D153delFs
c.459delG
1 paper
NM_001370259.2
p.L152_D153del2
c.454_458del6
3 papers
NM_001370259.2
p.S154I
c.461G>T
3 papers
NM_001370259.2
p.D153Y
c.457G>T
2 papers
NM_001370259.2
p.S154N
c.461G>A
1 paper
NM_001370259.2
p.L152F
c.456G>T
1 paper
NM_001370259.2
p.L152F
c.456G>C
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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."