Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.I457T

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.I457T
c.1370T>C
Surrounding Variants
2 papers
NM_001370259.2
p.R452_R456del0
c.1356_1367del12
1 paper
NM_001370259.2
p.V458A
c.1373T>C
1 paper
NM_001370259.2
p.R456H
c.1367G>A
1 paper
NM_001370259.2
p.V458Fs
c.1372delinsGTCGGGFs
3 papers
NM_001370259.2
p.R456C
c.1366C>T
1 paper
NM_000244.4
p.R461insFs
c.1381_1382insG
1 paper
NM_001370259.2
p.R452_V455delFs
c.1355_1365del11
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.S459_R460insFs
c.1377_1378insG
1 paper
NM_001370259.2
p.V458_S459delFs
c.1373_1376del4
1 paper
NM_001370259.2
p.K454N
c.1362G>C
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