Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P489T

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.P489T
c.1465C>A
Surrounding Variants
1 paper
NM_000244.4
p.P494L
c.1481C>T
1 paper
NM_001370259.2
p.R485_K488del4
c.1453_1463del12
1 paper
NM_001370259.2
p.K488R
c.1463A>G
1 paper
NM_001370259.2
p.P489delFs
c.1466delG
1 paper
NM_001370259.2
p.K488*
c.1462A>T
1 paper
NM_001370259.2
p.K488_P489insA
c.1462_1466ins3
1 paper
NM_000244.4
p.S492C
c.1475C>G
1 paper
NM_001370259.2
p.P483_S487delFs
c.1449_1459del11
3 papers
NM_001370259.2
p.S487A
c.1459T>G
1 paper
NM_001370259.2
p.S487P
c.1459T>C
1 paper
NM_001370259.2
p.R485_E486del2
c.1453_1457del6
3 papers
NM_001370259.2
p.E491*
c.1471G>T
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