Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.D33E

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.D33E
c.99C>G
Surrounding Variants
1 paper
NM_001370259.2
p.D33D
c.99C>T
1 paper
NM_001370259.2
p.D33E
c.99C>A
1 paper
NM_001370259.2
p.E31_D33del0
c.93_98del6
1 paper
NM_001370259.2
p.L34V
c.100C>G
1 paper
NM_001370259.2
p.L34_V35insCT
c.100_104ins6
1 paper
NM_001370259.2
p.L34M
c.100C>A
1 paper
NM_001370259.2
p.D33A
c.98A>C
1 paper
NM_001370259.2
p.L34R
c.101T>G
1 paper
NM_001370259.2
p.P32_D33del2
c.94_98del6
1 paper
NM_001370259.2
p.D33Y
c.97G>T
3 papers
NM_001370259.2
p.D33N
c.97G>A
1 paper
NM_001370259.2
p.P32delFs
c.94delG
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