Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R131C

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
2 papers
NM_001370259.2
p.R131C
c.391C>T
Surrounding Variants
1 paper
NM_001370259.2
p.R131L
c.392G>T
1 paper
NM_001370259.2
p.R131H
c.392G>A
1 paper
NM_001370259.2
p.R131delFs
c.391delG
1 paper
NM_001370259.2
p.W126_R131delFs
c.376_391del16
1 paper
NM_001370259.2
p.R131R
c.393C>T
1 paper
NM_001370259.2
p.R131R
c.393C>A
1 paper
NM_001370259.2
p.S132A
c.394T>G
1 paper
NM_001370259.2
p.L129_R131del3
c.385_392del9
1 paper
NM_001370259.2
p.V124_R131delFs
c.372_393del22
1 paper
NM_001370259.2
p.S130C
c.388A>T
1 paper
NM_001370259.2
p.L129L
c.387C>T
1 paper
NM_001370259.2
p.L129L
c.387C>G
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