Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F144C

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
5 papers
NM_001370259.2
p.F144C
c.431T>G
Surrounding Variants
2 papers
NM_001370259.2
p.F144S
c.431T>C
1 paper
NM_001370259.2
p.S142_L143del2
c.424_428del6
1 paper
NM_001370259.2
p.Y133_F144del0
c.398_430del33
13 papers
NM_001370259.2
p.F144V
c.430T>G
1 paper
NM_001370259.2
p.F144L
c.430T>C
1 paper
NM_001370259.2
p.F144I
c.430T>A
1 paper
NM_001370259.2
p.I140_L143del4
c.418_428del12
1 paper
NM_001370259.2
p.L129_L143del15
c.385_428del45
1 paper
NM_001370259.2
p.F144F
c.432C>T
2 papers
NM_001370259.2
p.F144L
c.432C>G
1 paper
NM_001370259.2
p.F144L
c.432C>A
1 paper
NM_001370259.2
p.F144delins
c.431_432delinsAA
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