Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F144L

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.F144L
c.432C>A
Surrounding Variants
1 paper
NM_001370259.2
p.F144F
c.432C>T
2 papers
NM_001370259.2
p.F144L
c.432C>G
1 paper
NM_001370259.2
p.F144delins
c.431_432delinsAA
1 paper
NM_001370259.2
p.L143_F144Fs
c.429_432delinsATTFs
5 papers
NM_001370259.2
p.F144C
c.431T>G
2 papers
NM_001370259.2
p.F144S
c.431T>C
1 paper
NM_001370259.2
p.S142_L143del2
c.424_428del6
1 paper
NM_001370259.2
p.Y133_F144del0
c.398_430del33
1 paper
NM_001370259.2
p.S145G
c.433A>G
7 papers
NM_001370259.2
p.S145R
c.433A>C
2 papers
NM_001370259.2
p.S145insFs
c.433_434ins4
1 paper
NM_001370259.2
p.F144delFs
c.432delG
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