Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L48P

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.L48P
c.143T>C
Surrounding Variants
1 paper
NM_001370259.2
p.L48ins5
c.142_143ins15
1 paper
NM_001370259.2
p.L48delFs
c.142delG
1 paper
NM_001370259.2
p.F47_L48insFs
c.139_143dup5
1 paper
NM_001370259.2
p.L48delFs
c.142_143delAG
1 paper
NM_001370259.2
p.F47_L48delFs
c.140_143del4
1 paper
NM_001370259.2
p.F43_L48del0
c.129_143del15
1 paper
NM_001370259.2
p.L41_L48delFs
c.122_143del22
1 paper
NM_001370259.2
p.L48V
c.142C>G
3 papers
NM_001370259.2
p.F47delFs
c.141delA
1 paper
NM_001370259.2
p.F47delFs
c.140_141delAA
1 paper
NM_001370259.2
p.F47fs
c.139_140fs
1 paper
NM_001370259.2
p.A49S
c.145G>T
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