Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q258H

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.Q258H
c.774G>T
Surrounding Variants
1 paper
NM_001370259.2
p.Q258H
c.774G>C
2 papers
NM_001370259.2
p.L259_Q260ins4
c.775_779ins12
1 paper
NM_001370259.2
p.L259R
c.776T>G
1 paper
NM_001370259.2
p.L259P
c.776T>C
7 papers
NM_000244.4
p.Q263*
c.787C>T
NM_001370259.2
p.Q258*
c.772C>T
3 papers
NM_001370259.2
p.L259L
c.777G>A
1 paper
NM_001370259.2
p.L259delFs
c.776delA
12 papers
NM_001370259.2
p.Q260*
c.778C>T
1 paper
NM_001370259.2
p.L257fs
c.769_770fs
1 paper
NM_001370259.2
p.L257L
c.769C>T
1 paper
NM_001370259.2
p.L254_L256insFs
c.762_768dup7
1 paper
NM_000244.4
p.L261delFs
c.783delA
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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."