Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P494L

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.P494L
c.1481C>T
Surrounding Variants
1 paper
NM_001370259.2
p.E491_P493del3
c.1471_1478del9
1 paper
NM_000244.4
p.P497_P498insFs
c.1491_1492insCC
1 paper
NM_001370259.2
p.P493fs
c.1477_1478fs
2 papers
NM_001370259.2
p.P493delFs
c.1477delG
1 paper
NM_001370259.2
p.P493L
c.1478C>T
1 paper
NM_001370259.2
p.E491_P495delFs
c.1473_1483del11
1 paper
NM_001370259.2
p.P493fs
c.1477_1478fs
1 paper
NM_001370259.2
p.P492R
c.1475C>G
1 paper
NM_001370259.2
p.P492S
c.1474C>T
1 paper
NM_001370259.2
p.K497fs
c.1489_1490fs
3 papers
NM_001370259.2
p.E491*
c.1471G>T
1 paper
NM_000244.4
p.K502N
c.1506G>T
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