Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R452_Q453del2

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.R452_Q453del2
c.1354_1358del6
Surrounding Variants
1 paper
NM_001370259.2
p.K454N
c.1362G>C
1 paper
NM_001370259.2
p.K454delFs
c.1361delT
10 papers
NM_001370259.2
p.Q453*
c.1357C>T
1 paper
NM_001370259.2
p.Q453E
c.1357C>G
1 paper
NM_000244.4
p.K459_V460insFs
c.1377_1378insG
1 paper
NM_001370259.2
p.V455G
c.1364T>G
3 papers
NM_001370259.2
p.R452Q
c.1355G>A
1 paper
NM_001370259.2
p.R452fs
c.1354_1355fs
3 papers
NM_001370259.2
p.R456C
c.1366C>T
1 paper
NM_001370259.2
p.R452W
c.1354C>T
1 paper
NM_000244.4
p.R461insFs
c.1381_1382insG
1 paper
NM_001370259.2
p.R452_V455delFs
c.1355_1365del11
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