Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S113C

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.S113C
c.338C>G
Surrounding Variants
1 paper
NM_001370259.2
p.S113F
c.338C>T
1 paper
NM_001370259.2
p.V112delFs
c.336delG
1 paper
NM_001370259.2
p.V112insFs
c.334_335dupGT
1 paper
NM_001370259.2
p.V112fs
c.334_335fs
3 papers
NM_001370259.2
p.S114C
c.340A>T
1 paper
NM_001370259.2
p.S114R
c.340A>C
1 paper
NM_001370259.2
p.G111_V112delFs
c.331_334del4
1 paper
NM_001370259.2
p.S114I
c.341G>T
1 paper
NM_001370259.2
p.S114insFs
c.340dupA
1 paper
NM_001370259.2
p.S114insFs
c.341_342insTA
1 paper
NM_001370259.2
p.V112F
c.334G>T
1 paper
NM_001370259.2
p.G111insFs
c.333dupT
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