Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F43_V44delFs

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.F43_V44delFs
c.129_130delCG
Surrounding Variants
1 paper
NM_001370259.2
p.V44insFs
c.131dupT
1 paper
NM_001370259.2
p.V44M
c.130G>A
1 paper
NM_001370259.2
p.V44fs
c.130_131fs
2 papers
NM_001370259.2
p.F43_V44delins
c.127_132delinsTTG
5 papers
NM_001370259.2
p.E45*
c.133G>T
8 papers
NM_001370259.2
p.E45Q
c.133G>C
13 papers
NM_001370259.2
p.E45K
c.133G>A
1 paper
NM_001370259.2
p.F43L
c.129C>G
1 paper
NM_001370259.2
p.F43fs
c.127_128fs
7 papers
NM_001370259.2
p.F43_V44insFs
c.129_130insA
1 paper
NM_001370259.2
p.F43L
c.129C>A
1 paper
NM_001370259.2
p.L39_F43del0
c.117_128del12
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