Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P72H

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.P72H
c.215C>A
Surrounding Variants
1 paper
NM_001370259.2
p.P72L
c.215C>T
1 paper
NM_001370259.2
p.P72_G73insFs
c.216_217insA
1 paper
NM_001370259.2
p.P72P
c.216T>C
1 paper
NM_001370259.2
p.P69_P72delFs
c.206_215del10
2 papers
NM_001370259.2
p.P69_P72delFs
c.205_215del11
1 paper
NM_001370259.2
p.P65_P72delFs
c.194_215del22
1 paper
NM_001370259.2
p.G73C
c.217G>T
1 paper
NM_001370259.2
p.P69_P72delFs
c.206_216del11
2 papers
NM_001370259.2
p.P71delFs
c.211delG
1 paper
NM_001370259.2
p.P71delFs
c.211_212delGG
1 paper
NM_001370259.2
p.G73D
c.218G>A
1 paper
NM_001370259.2
p.A68_G73delFs
c.204_217del14
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