Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K135*

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
5 papers
NM_001370259.2
p.K135*
c.403A>T
Surrounding Variants
2 papers
NM_001370259.2
p.K135E
c.403A>G
1 paper
NM_001370259.2
p.K135Q
c.403A>C
1 paper
NM_001370259.2
p.F134insFs
c.402dupC
5 papers
NM_001370259.2
p.F134delFs
c.402delG
2 papers
NM_001370259.2
p.F134F
c.402C>T
2 papers
NM_001370259.2
p.F134L
c.402C>G
2 papers
NM_001370259.2
p.F134fs
c.400_401fs
2 papers
NM_001370259.2
p.F134L
c.402C>A
3 papers
NM_001370259.2
p.F134delFs
c.400delA
1 paper
NM_001370259.2
p.K135T
c.404A>C
6 papers
NM_001370259.2
p.K135delFs
c.404delT
3 papers
NM_001370259.2
p.F134insFs
c.400_401insC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."