Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A242V

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
42 papers
NM_001370259.2
p.A242V
c.725C>T
Surrounding Variants
1 paper
NM_001370259.2
p.V240_A242insFs
c.718_724dup7
1 paper
NM_001370259.2
p.A242insFs
c.724_725insGA
3 papers
NM_001370259.2
p.A242S
c.724G>T
1 paper
NM_001370259.2
p.A242fs
c.724_725fs
1 paper
NM_001370259.2
p.I243V
c.727A>G
1 paper
NM_001370259.2
p.I243T
c.728T>C
2 papers
NM_001370259.2
p.I243N
c.728T>A
4 papers
NM_001370259.2
p.C241F
c.722G>T
1 paper
NM_001370259.2
p.C241S
c.722G>C
7 papers
NM_001370259.2
p.C241Y
c.722G>A
3 papers
NM_001370259.2
p.C241R
c.721T>C
1 paper
NM_001370259.2
p.C241S
c.721T>A
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