Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K517fs

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
3 papers
NM_001370259.2
p.K517fs
c.1549_1550fs
Surrounding Variants
1 paper
NM_001370259.2
p.K517*
c.1549A>T
1 paper
NM_001370259.2
p.K517E
c.1549A>G
5 papers
NM_001370259.2
p.R516insFs
c.1548dupG
2 papers
NM_001370259.2
p.R516delFs
c.1548delC
10 papers
NM_001370259.2
p.R516fs
c.1546_1547fs
NM_000244.4
p.R521fs
c.1561_1562fs
46 papers
NM_001370259.2
p.R516insFs
c.1546_1547insC
NM_000244.4
p.R521insFs
c.1546dupC
1 paper
NM_000244.4
p.K522K
c.1566G>A
1 paper
NM_001370259.2
p.R516Q
c.1547G>A
16 papers
NM_001370259.2
p.R516delFs
c.1546delG
NM_000244.4
p.R521delFs
c.1561delG
13 papers
NM_001370259.2
p.R516fs
c.1546_1547fs
1 paper
NM_001370259.2
p.R516W
c.1546C>T
4 papers
NM_001370259.2
p.R516G
c.1546C>G
NM_130803.3
p.R521G
c.1561C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."