Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P12_L13delFs

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.P12_L13delFs
c.34_37del4
Surrounding Variants
2 papers
NM_001370259.2
p.L13R
c.38T>G
2 papers
NM_001370259.2
p.L13P
c.38T>C
3 papers
NM_001370259.2
p.L13Q
c.38T>A
1 paper
NM_001370259.2
p.L13delFs
c.37delG
1 paper
NM_001370259.2
p.P12_L13delFs
c.36_37delGC
1 paper
NM_001370259.2
p.K8_P12delFs
c.24_36del13
1 paper
NM_001370259.2
p.P12insFs
c.34dupC
1 paper
NM_001370259.2
p.P12P
c.36G>A
6 papers
NM_001370259.2
p.R14C
c.40C>T
1 paper
NM_001370259.2
p.R14S
c.40C>A
1 paper
NM_001370259.2
p.L13delFs
c.39delC
1 paper
NM_001370259.2
p.R14H
c.41G>A
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