Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.D180A

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.D180A
c.539A>C
Surrounding Variants
1 paper
NM_001370259.2
p.D180V
c.539A>T
1 paper
NM_001370259.2
p.D180delFs
c.538delC
1 paper
NM_001370259.2
p.D172_D180delFs
c.514_538del25
1 paper
NM_001370259.2
p.D180E
c.540T>G
1 paper
NM_001370259.2
p.D180E
c.540T>A
1 paper
NM_001370259.2
p.A176_D180delFs
c.527_539del13
1 paper
NM_001370259.2
p.D180Y
c.538G>T
1 paper
NM_001370259.2
p.D180N
c.538G>A
1 paper
NM_001370259.2
p.E179_D180delins
c.537_538delinsTT
6 papers
NM_001370259.2
p.E179D
c.537G>T
NM_000244.4
p.E184D
c.552G>T
8 papers
NM_001370259.2
p.E179D
c.537G>C
NM_000244.4
p.E184D
c.552G>C
3 papers
NM_001370259.2
p.H181D
c.541C>G
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