Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S84P

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.S84P
c.250T>C
Surrounding Variants
1 paper
NM_001370259.2
p.L83ins0
c.247_249dupCTG
1 paper
NM_001370259.2
p.S84A
c.250T>G
1 paper
NM_001370259.2
p.L83delFs
c.249delC
1 paper
NM_001370259.2
p.S84fs
c.250_251fs
1 paper
NM_001370259.2
p.L83L
c.249G>T
6 papers
NM_001370259.2
p.L83fs
c.247_248fs
3 papers
NM_001370259.2
p.L83delFs
c.248delA
1 paper
NM_001370259.2
p.S84C
c.251C>G
2 papers
NM_001370259.2
p.L83_S84insFs
c.249_250dupGT
1 paper
NM_001370259.2
p.S84insFs
c.251_252insGA
1 paper
NM_001370259.2
p.S84Y
c.251C>A
2 papers
NM_001370259.2
p.L83_S84delFs
c.249_250delAC
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."