Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W428R

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
10 papers
NM_000244.4
p.W428R
c.1282T>A
NM_001370259.2
p.W423R
c.1267T>A
Surrounding Variants
9 papers
NM_000244.4
p.W428R
c.1282T>C
NM_001370259.2
p.W423R
c.1267T>C
7 papers
NM_001370259.2
p.W423S
c.1268G>C
12 papers
NM_001370259.2
p.W423*
c.1268G>A
1 paper
NM_001370259.2
p.F416_W423delFs
c.1248_1267del20
10 papers
NM_001370259.2
p.W423*
c.1269G>A
1 paper
NM_001370259.2
p.G419_W423del0
c.1257_1268del12
1 paper
NM_001370259.2
p.K422insFs
c.1265_1266insG
2 papers
NM_001370259.2
p.E424K
c.1270G>A
1 paper
NM_001370259.2
p.E424fs
c.1270_1271fs
1 paper
NM_001370259.2
p.K422E
c.1264A>G
2 papers
NM_001370259.2
p.E424insFs
c.1270dupG
3 papers
NM_001370259.2
p.W423delFs
c.1269delC
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