Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F553insFs

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
22 papers
NM_001370259.2
p.F553insFs
c.1657_1658insC
Surrounding Variants
1 paper
NM_001370259.2
p.T552_F553insFs
c.1656_1657insG
4 papers
NM_001370259.2
p.T552_F553insFs
c.1656_1657insC
1 paper
NM_001370259.2
p.T552I
c.1655C>T
5 papers
NM_001370259.2
p.T552S
c.1655C>G
1 paper
NM_001370259.2
p.F553insFs
c.1657_1658insT
2 papers
NM_001370259.2
p.F553_Q554insFs
c.1659_1660insG
6 papers
NM_001370259.2
p.Q554*
c.1660C>T
6 papers
NM_001370259.2
p.T552S
c.1654A>T
NM_000244.4
p.T557S
c.1669A>T
1 paper
NM_001370259.2
p.T552A
c.1654A>G
1 paper
NM_001370259.2
p.E547_V550del4
c.1639_1649del12
1 paper
NM_001370259.2
p.S555C
c.1663A>T
3 papers
NM_001370259.2
p.S555R
c.1663A>C
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