Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S246delFs

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.S246delFs
c.736delA
Surrounding Variants
1 paper
NM_001370259.2
p.S246A
c.736T>G
1 paper
NM_001370259.2
p.P245_S246del1
c.735_737delGAA
5 papers
NM_001370259.2
p.P245delFs
c.734delG
1 paper
NM_001370259.2
p.P245_S246delFs
c.734_737del4
1 paper
NM_001370259.2
p.I247T
c.740T>C
1 paper
NM_001370259.2
p.P245S
c.733C>T
1 paper
NM_001370259.2
p.P245A
c.733C>G
1 paper
NM_001370259.2
p.D248Y
c.742G>T
1 paper
NM_001370259.2
p.S246_I247delFs
c.738_741del4
2 papers
NM_130804.3
p.N249_I252del4
c.745_755del12
1 paper
NM_001370259.2
p.D248delFs
c.742delC
1 paper
NM_001370259.2
p.I243delFs
c.729delG
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