Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.V53delFs

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.V53delFs
c.157delC
Surrounding Variants
1 paper
NM_001370259.2
p.V53D
c.158T>A
1 paper
NM_001370259.2
p.V53L
c.157G>C
3 papers
NM_001370259.2
p.V53I
c.157G>A
3 papers
NM_001370259.2
p.R52delFs
c.156delG
1 paper
NM_001370259.2
p.I54fs
c.160_161fs
1 paper
NM_001370259.2
p.V50_R52delFs
c.149_155del7
10 papers
NM_001370259.2
p.I54F
c.160A>T
1 paper
NM_001370259.2
p.I54V
c.160A>G
1 paper
NM_001370259.2
p.I54insFs
c.160_161insTC
1 paper
NM_001370259.2
p.V50_V53del4
c.148_158del12
1 paper
NM_001370259.2
p.L41_V53delFs
c.122_159del38
1 paper
NM_001370259.2
p.I54insFs
c.161_162insG
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."