Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E179G

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.E179G
c.536A>G
Surrounding Variants
4 papers
NM_001370259.2
p.E179V
c.536A>T
1 paper
NM_001370259.2
p.E179A
c.536A>C
3 papers
NM_001370259.2
p.S178_E179delFs
c.532_535del4
1 paper
NM_001370259.2
p.A176_E179del0
c.527_535del9
6 papers
NM_001370259.2
p.E179D
c.537G>T
NM_000244.4
p.E184D
c.552G>T
1 paper
NM_001370259.2
p.E179*
c.535G>T
1 paper
NM_001370259.2
p.S178insFs
c.534dupT
8 papers
NM_001370259.2
p.E179D
c.537G>C
NM_000244.4
p.E184D
c.552G>C
3 papers
NM_001370259.2
p.E179Q
c.535G>C
5 papers
NM_001370259.2
p.E179K
c.535G>A
1 paper
NM_001370259.2
p.S178insFs
c.533dupC
1 paper
NM_001370259.2
p.D180Y
c.538G>T
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