Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E474Q

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.E474Q
c.1420G>C
Surrounding Variants
2 papers
NM_001370259.2
p.E474*
c.1420G>T
1 paper
NM_001370259.2
p.E474K
c.1420G>A
1 paper
NM_000244.4
p.E478fs
c.1432_1433fs
1 paper
NM_001370259.2
p.E474Fs
c.1421delinsCGFs
3 papers
NM_001370259.2
p.E473delFs
c.1419delC
1 paper
NM_001370259.2
p.E473G
c.1418A>G
4 papers
NM_001370259.2
p.E473*
c.1417G>T
4 papers
NM_001370259.2
p.E474_A475insFs
c.1422_1423insA
1 paper
NM_001370259.2
p.E473K
c.1417G>A
1 paper
NM_000244.4
p.G477insFs
c.1430dupG
4 papers
NM_001370259.2
p.G472delFs
c.1414delC
1 paper
NM_001370259.2
p.G472A
c.1415G>C
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