Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L177V

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.L177V
c.529C>G
Surrounding Variants
1 paper
NM_001370259.2
p.L177R
c.530T>G
1 paper
NM_001370259.2
p.L177P
c.530T>C
1 paper
NM_001370259.2
p.L177Q
c.530T>A
1 paper
NM_001370259.2
p.A176A
c.528C>T
3 papers
NM_001370259.2
p.L177L
c.531G>A
1 paper
NM_001370259.2
p.L177delFs
c.530delA
1 paper
NM_001370259.2
p.L177delFs
c.529_530delAG
1 paper
NM_001370259.2
p.A176V
c.527C>T
1 paper
NM_001370259.2
p.A176delFs
c.526delC
1 paper
NM_001370259.2
p.S178P
c.532T>C
5 papers
NM_001370259.2
p.A176S
c.526G>T
19 papers
NM_001370259.2
p.A176P
c.526G>C
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