Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E408K

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.E408K
c.1222G>A
Surrounding Variants
1 paper
NM_001370259.2
p.E408Q
c.1222G>C
2 papers
NM_001370259.2
p.C409fs
c.1225_1226fs
2 papers
NM_001370259.2
p.E408_C409insFs
c.1224_1225ins4
1 paper
NM_001370259.2
p.C409C
c.1227C>T
3 papers
NM_001370259.2
p.C409*
c.1227C>A
3 papers
NM_001370259.2
p.F410L
c.1228T>C
3 papers
NM_001370259.2
p.C409delFs
c.1227delG
1 paper
NM_001370259.2
p.D406insFs
c.1216_1217insA
1 paper
NM_001370259.2
p.S399_Q405del7
c.1195_1214del21
1 paper
NM_001370259.2
p.F410S
c.1229T>C
1 paper
NM_001370259.2
p.Q405_D406insFs
c.1215_1216insAA
3 papers
NM_001370259.2
p.F410L
c.1230C>G
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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."