Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.V44del1

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.V44del1
c.130_131delCAC
Surrounding Variants
6 papers
NM_001370259.2
p.E45V
c.134A>T
19 papers
NM_001370259.2
p.E45G
c.134A>G
4 papers
NM_001370259.2
p.E45A
c.134A>C
8 papers
NM_001370259.2
p.E45D
c.135G>T
5 papers
NM_001370259.2
p.E45*
c.133G>T
10 papers
NM_001370259.2
p.E45D
c.135G>C
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.V44insFs
c.131dupT
2 papers
NM_001370259.2
p.F43_V44delins
c.127_132delinsTTG
1 paper
NM_001370259.2
p.F43_V44delFs
c.129_130delCG
1 paper
NM_001370259.2
p.H46L
c.137A>T
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