Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.I420N

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
2 papers
NM_001370259.2
p.I420N
c.1259T>A
Surrounding Variants
1 paper
NM_001370259.2
p.I420insFs
c.1259_1260insA
1 paper
NM_001370259.2
p.I420F
c.1258A>T
1 paper
NM_001370259.2
p.I420V
c.1258A>G
2 papers
NM_001370259.2
p.G419V
c.1256G>T
3 papers
NM_001370259.2
p.G419D
c.1256G>A
2 papers
NM_001370259.2
p.C421Y
c.1262G>A
10 papers
NM_001370259.2
p.D418_G419del1
c.1253_1255delCGT
1 paper
NM_001370259.2
p.G419R
c.1255G>C
1 paper
NM_001370259.2
p.D418delFs
c.1254delG
1 paper
NM_001370259.2
p.D418delFs
c.1253_1254delGT
1 paper
NM_001370259.2
p.L404_D418del15
c.1210_1253del45
10 papers
NM_001370259.2
p.D418D
c.1254C>T
NM_130803.3
p.D423D
c.1269C>T
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