Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.N127D

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.N127D
c.379A>G
Surrounding Variants
1 paper
NM_001370259.2
p.N127fs
c.379_380fs
3 papers
NM_001370259.2
p.W126delFs
c.377delC
1 paper
NM_001370259.2
p.W126fs
c.376_377fs
1 paper
NM_001370259.2
p.W126C
c.378G>C
27 papers
NM_001370259.2
p.W126*
c.378G>A
1 paper
NM_001370259.2
p.W126delins
c.377_378delinsAA
1 paper
NM_001370259.2
p.N127I
c.380A>T
1 paper
NM_001370259.2
p.N127S
c.380A>G
1 paper
NM_001370259.2
p.I125insFs
c.374_375dupTA
1 paper
NM_001370259.2
p.W126S
c.377G>C
26 papers
NM_001370259.2
p.W126*
c.377G>A
2 papers
NM_001370259.2
p.I125_W126delFs
c.375_376delAT
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