Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P65L

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.P65L
c.194C>T
Surrounding Variants
3 papers
NM_001370259.2
p.P65H
c.194C>A
3 papers
NM_001370259.2
p.P65P
c.195C>T
4 papers
NM_001370259.2
p.P65_S66insFs
c.195_196insT
4 papers
NM_001370259.2
p.P65_S66insFs
c.195_196insA
1 paper
NM_001370259.2
p.P65T
c.193C>A
1 paper
NM_001370259.2
p.S66R
c.196A>C
1 paper
NM_001370259.2
p.P65insFs
c.195dupC
1 paper
NM_001370259.2
p.P65delFs
c.195delG
1 paper
NM_001370259.2
p.Q64_S66Fs
c.190_196delinsAAGCCCAGCCCCFs
2 papers
NM_001370259.2
p.S66I
c.197G>T
1 paper
NM_001370259.2
p.S66N
c.197G>A
1 paper
NM_001370259.2
p.S66Fs
c.197delinsAAFs
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."