Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.T148P

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.T148P
c.442A>C
Surrounding Variants
1 paper
NM_001370259.2
p.T148S
c.442A>T
1 paper
NM_001370259.2
p.T148A
c.442A>G
3 papers
NM_001370259.2
p.S145_T148Fs
c.433_442delinsAGAFs
1 paper
NM_001370259.2
p.T148I
c.443C>T
1 paper
NM_001370259.2
p.T148delFs
c.442delT
3 papers
NM_001370259.2
p.I147del1
c.439_440delGAT
1 paper
NM_001370259.2
p.I147N
c.440T>A
1 paper
NM_001370259.2
p.S145_I147del0
c.434_439del6
1 paper
NM_001370259.2
p.G149C
c.445G>T
1 paper
NM_001370259.2
p.G149insFs
c.445_446insC
1 paper
NM_001370259.2
p.G149_T150insGCA
c.445_449ins9
1 paper
NM_001370259.2
p.G149_T150ins9
c.445_449ins27
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