Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Y222delFs

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.Y222delFs
c.665_666delGT
Surrounding Variants
2 papers
NM_001370259.2
p.L223L
c.667C>T
14 papers
NM_001370259.2
p.L223P
c.668T>C
NM_000244.4
p.L228P
c.683T>C
3 papers
NM_001370259.2
p.Y222*
c.666C>G
NM_000244.4
p.Y227*
c.681C>G
3 papers
NM_001370259.2
p.Y222*
c.666C>A
NM_000244.4
p.Y227*
c.681C>A
1 paper
NM_001370259.2
p.L223L
c.669G>C
1 paper
NM_001370259.2
p.L223Fs
c.668_669delinsGFs
1 paper
NM_001370259.2
p.L223delFs
c.667_668delAG
1 paper
NM_001370259.2
p.Y222F
c.665A>T
1 paper
NM_001370259.2
p.W220_Y222del0
c.659_664del6
1 paper
NM_001370259.2
p.K224*
c.670A>T
1 paper
NM_001370259.2
p.K224T
c.671A>C
1 paper
NM_001370259.2
p.L221delFs
c.661delG
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