Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W220C

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.W220C
c.660G>C
Surrounding Variants
1 paper
NM_001370259.2
p.W220C
c.660G>T
1 paper
NM_001370259.2
p.W220_L221insFs
c.660_661insA
11 papers
NM_001370259.2
p.W220*
c.660G>A
5 papers
NM_001370259.2
p.W220L
c.659G>T
2 papers
NM_001370259.2
p.W220S
c.659G>C
10 papers
NM_001370259.2
p.W220*
c.659G>A
1 paper
NM_000244.4
p.W225delFs
c.674delC
1 paper
NM_001370259.2
p.S219_W220del2
c.655_659del6
1 paper
NM_001370259.2
p.W220G
c.658T>G
10 papers
NM_001370259.2
p.W220R
c.658T>C
10 papers
NM_001370259.2
p.W220R
c.658T>A
1 paper
NM_001370259.2
p.L221delFs
c.661delG
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