Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K8_T9Fs

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.K8_T9Fs
c.23_25delinsGTFs
Surrounding Variants
1 paper
NM_001370259.2
p.K8delFs
c.23delT
2 papers
NM_001370259.2
p.K8R
c.23A>G
1 paper
NM_001370259.2
p.A5_L10Fs
c.14_28delinsCTFs
1 paper
NM_001370259.2
p.K8*
c.22A>T
1 paper
NM_001370259.2
p.K8E
c.22A>G
1 paper
NM_001370259.2
p.L10R
c.29T>G
1 paper
NM_001370259.2
p.L10P
c.29T>C
1 paper
NM_001370259.2
p.L10Q
c.29T>A
1 paper
NM_001370259.2
p.A5_L10delFs
c.15_28del14
1 paper
NM_001370259.2
p.Q7Q
c.21G>A
2 papers
NM_001370259.2
p.L10L
c.30G>T
2 papers
NM_001370259.2
p.L10L
c.30G>A
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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."