Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q450_V451Splc

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
2 papers
NM_001370259.2
p.Q450_V451Splc
c.1351-2A>G
Surrounding Variants
1 paper
NM_001370259.2
p.Q450_V451Splc
c.1351-2A>T
2 papers
NM_001370259.2
p.Q450_V451Splc
c.1351-2A>C
3 papers
NM_001370259.2
p.Q450_V451Splc
c.1351-1G>T
1 paper
NM_001370259.2
p.V451_R452insC
c.1351_1355ins3
1 paper
NM_001370259.2
p.V451M
c.1351G>A
1 paper
NM_001370259.2
p.V451E
c.1352T>A
1 paper
NM_001370259.2
p.R452fs
c.1354_1355fs
1 paper
NM_001370259.2
p.R452W
c.1354C>T
3 papers
NM_001370259.2
p.R452Q
c.1355G>A
10 papers
NM_001370259.2
p.Q453*
c.1357C>T
1 paper
NM_001370259.2
p.Q453E
c.1357C>G
1 paper
NM_001370259.2
p.R452_Q453del2
c.1354_1358del6
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