Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F43L

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.F43L
c.129C>G
Surrounding Variants
1 paper
NM_001370259.2
p.F43fs
c.127_128fs
7 papers
NM_001370259.2
p.F43_V44insFs
c.129_130insA
1 paper
NM_001370259.2
p.F43L
c.129C>A
1 paper
NM_001370259.2
p.L39_F43del0
c.117_128del12
1 paper
NM_001370259.2
p.V44M
c.130G>A
1 paper
NM_001370259.2
p.V44fs
c.130_131fs
1 paper
NM_001370259.2
p.F43L
c.127T>C
1 paper
NM_001370259.2
p.F43_V44delFs
c.129_130delCG
1 paper
NM_001370259.2
p.V44insFs
c.131dupT
2 papers
NM_001370259.2
p.F43_V44delins
c.127_132delinsTTG
5 papers
NM_001370259.2
p.E45*
c.133G>T
5 papers
NM_001370259.2
p.G42V
c.125G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."