Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L129delFs

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.L129delFs
c.386delA
Surrounding Variants
1 paper
NM_001370259.2
p.L129L
c.387C>T
1 paper
NM_001370259.2
p.L129L
c.387C>G
1 paper
NM_001370259.2
p.L129fs
c.385_386fs
1 paper
NM_001370259.2
p.L129P
c.386T>C
3 papers
NM_001370259.2
p.L129delFs
c.385delG
1 paper
NM_001370259.2
p.S130C
c.388A>T
2 papers
NM_001370259.2
p.L129F
c.385C>T
3 papers
NM_001370259.2
p.L129_S130insA
c.385_389ins3
2 papers
NM_001370259.2
p.L129I
c.385C>A
1 paper
NM_001370259.2
p.S128N
c.383G>A
1 paper
NM_001370259.2
p.N127_S128delFs
c.381_382delTG
2 papers
NM_001370259.2
p.R131C
c.391C>T
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