Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F47Y

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.F47Y
c.140T>A
Surrounding Variants
1 paper
NM_001370259.2
p.F47fs
c.139_140fs
1 paper
NM_001370259.2
p.F47L
c.139T>C
2 papers
NM_001370259.2
p.F47I
c.139T>A
1 paper
NM_001370259.2
p.L48V
c.142C>G
3 papers
NM_001370259.2
p.F47delFs
c.141delA
1 paper
NM_001370259.2
p.F47delFs
c.140_141delAA
1 paper
NM_001370259.2
p.L48ins5
c.142_143ins15
1 paper
NM_001370259.2
p.L48P
c.143T>C
1 paper
NM_001370259.2
p.L48delFs
c.142delG
1 paper
NM_001370259.2
p.H46L
c.137A>T
4 papers
NM_001370259.2
p.H46P
c.137A>C
1 paper
NM_001370259.2
p.F47_L48insFs
c.139_143dup5
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."