Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A160D

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.A160D
c.479C>A
Surrounding Variants
1 paper
NM_001370259.2
p.A160V
c.479C>T
2 papers
NM_001370259.2
p.A160G
c.479C>G
1 paper
NM_001370259.2
p.A160_V161insFs
c.480_481ins4
1 paper
NM_001370259.2
p.A160_V161insTC
c.478_482ins6
22 papers
NM_001370259.2
p.A160P
c.478G>C
13 papers
NM_001370259.2
p.A160T
c.478G>A
1 paper
NM_001370259.2
p.F159delFs
c.477delA
1 paper
NM_001370259.2
p.S154_F159delFs
c.462_477del16
1 paper
NM_001370259.2
p.F159fs
c.475_476fs
1 paper
NM_001370259.2
p.F159L
c.477T>G
1 paper
NM_001370259.2
p.F159L
c.477T>A
2 papers
NM_001370259.2
p.V161L
c.481G>T
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