Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G478G

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
3 papers
NM_001370259.2
p.G478G
c.1434C>T
Surrounding Variants
1 paper
NM_001370259.2
p.G478delFs
c.1432_1433delCC
1 paper
NM_001370259.2
p.A462_E477del16
c.1384_1430del48
1 paper
NM_001370259.2
p.R479W
c.1435C>T
1 paper
NM_001370259.2
p.E477insFs
c.1429_1430ins4
1 paper
NM_001370259.2
p.G478delFs
c.1434delG
1 paper
NM_001370259.2
p.R480_R481ins4
c.1438_1442ins12
3 papers
NM_001370259.2
p.E477*
c.1429G>T
1 paper
NM_130803.3
p.R485Q
c.1454G>A
1 paper
NM_001370259.2
p.R476R
c.1428G>T
1 paper
NM_001370259.2
p.G478_R480del0
c.1433_1438del6
2 papers
NM_001370259.2
p.A465_R480delFs
c.1394_1439del46
1 paper
NM_001370259.2
p.R481W
c.1441C>T
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