Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S128fs

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
2 papers
NM_001370259.2
p.S128fs
c.382_383fs
Surrounding Variants
1 paper
NM_001370259.2
p.D123_N127del0
c.367_381del15
1 paper
NM_001370259.2
p.S128N
c.383G>A
1 paper
NM_001370259.2
p.N127_S128delFs
c.381_382delTG
1 paper
NM_001370259.2
p.N127K
c.381C>G
1 paper
NM_001370259.2
p.N127insFs
c.380_381insA
1 paper
NM_001370259.2
p.N127K
c.381C>A
1 paper
NM_001370259.2
p.N127I
c.380A>T
1 paper
NM_001370259.2
p.N127S
c.380A>G
2 papers
NM_001370259.2
p.L129F
c.385C>T
3 papers
NM_001370259.2
p.L129_S130insA
c.385_389ins3
2 papers
NM_001370259.2
p.L129I
c.385C>A
1 paper
NM_001370259.2
p.N127fs
c.379_380fs
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."