Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A164V

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
4 papers
NM_001370259.2
p.A164V
c.491C>T
Surrounding Variants
13 papers
NM_001370259.2
p.A164D
c.491C>A
NM_000244.4
p.A169D
c.506C>A
1 paper
NM_001370259.2
p.A164Fs
c.490_491delinsTFs
2 papers
NM_000244.4
p.A169delFs
c.505delC
NM_001370259.2
p.G163delFs
c.487delC
3 papers
NM_001370259.2
p.A164S
c.490G>T
1 paper
NM_001370259.2
p.V162_G163insFs
c.485_489dup5
3 papers
NM_001370259.2
p.A164P
c.490G>C
1 paper
NM_001370259.2
p.A164T
c.490G>A
1 paper
NM_001370259.2
p.G163_A164delins
c.489_490delinsTC
1 paper
NM_001370259.2
p.C165_Q166insG
c.493_497ins3
1 paper
NM_001370259.2
p.C165G
c.493T>G
5 papers
NM_001370259.2
p.C165R
c.493T>C
3 papers
NM_001370259.2
p.A164delFs
c.491delG
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