Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L504_T506delFs

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.L504_T506delFs
c.1511_1518del8
Surrounding Variants
1 paper
NM_001370259.2
p.G507fs
c.1519_1520fs
1 paper
NM_001370259.2
p.G507delFs
c.1520delC
9 papers
NM_001370259.2
p.Q508*
c.1522C>T
1 paper
NM_001370259.2
p.L500_G507delFs
c.1498_1520del23
1 paper
NM_001370259.2
p.P493_G505del13
c.1477_1514del39
1 paper
NM_001370259.2
p.G509insFs
c.1525_1526insC
1 paper
NM_001370259.2
p.P495_L504del10
c.1483_1511del30
1 paper
NM_001370259.2
p.T506_Q508del3
c.1516_1523del9
2 papers
NM_001370259.2
p.G509insFs
c.1525_1526insG
2 papers
NM_000244.4
p.Q513delFs
c.1539delC
NM_001370259.2
p.G509delFs
c.1526delC
1 paper
NM_001370259.2
p.P493_G503del11
c.1477_1508del33
1 paper
NM_001370259.2
p.L504fs
c.1510_1511fs
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