Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L143V

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.L143V
c.427C>G
Surrounding Variants
1 paper
NM_001370259.2
p.L143R
c.428T>G
2 papers
NM_001370259.2
p.L143P
c.428T>C
3 papers
NM_001370259.2
p.L143H
c.428T>A
2 papers
NM_001370259.2
p.L143delFs
c.427delG
1 paper
NM_001370259.2
p.Q141_S142delFs
c.422_425del4
3 papers
NM_001370259.2
p.L143L
c.429C>T
2 papers
NM_001370259.2
p.S142F
c.425C>T
1 paper
NM_001370259.2
p.S142C
c.425C>G
1 paper
NM_001370259.2
p.S142Y
c.425C>A
1 paper
NM_001370259.2
p.S142_L143ins15
c.424_428ins45
13 papers
NM_001370259.2
p.F144V
c.430T>G
2 papers
NM_001370259.2
p.S142P
c.424T>C
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