Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.S555fs

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.S555fs
c.1663_1664fs
Surrounding Variants
3 papers
NM_001370259.2
p.S555R
c.1665T>G
3 papers
NM_001370259.2
p.S555R
c.1665T>A
3 papers
NM_001370259.2
p.E556*
c.1666G>T
1 paper
NM_001370259.2
p.E556insFs
c.1666_1667insT
1 paper
NM_001370259.2
p.S555T
c.1664G>C
13 papers
NM_001370259.2
p.S555N
c.1664G>A
1 paper
NM_001370259.2
p.S555C
c.1663A>T
3 papers
NM_001370259.2
p.S555R
c.1663A>C
1 paper
NM_001370259.2
p.S555_E556insGT
c.1663_1667ins6
1 paper
NM_001370259.2
p.V550_Q554delFs
c.1649_1662del14
1 paper
NM_001370259.2
p.A542_Q554del13
c.1624_1661del39
3 papers
NM_001370259.2
p.E556_K557insFs
c.1668_1669insT
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."