Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L175delFs

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_000244.4
p.L175delFs
c.525delG
NM_001370259.2
p.R171delFs
c.511delG
Surrounding Variants
2 papers
NM_001370259.2
p.R171L
c.512G>T
1 paper
NM_001370259.2
p.R171P
c.512G>C
66 papers
NM_001370259.2
p.R171Q
c.512G>A
NM_000244.4
p.R176Q
c.527G>A
1 paper
NM_001370259.2
p.L170_R171Fs
c.508_512delinsGFs
1 paper
NM_001370259.2
p.R171R
c.513G>C
1 paper
NM_001370259.2
p.R171R
c.513G>A
9 papers
NM_001370259.2
p.R171W
c.511C>T
1 paper
NM_001370259.2
p.R171G
c.511C>G
1 paper
NM_001370259.2
p.R171R
c.511C>A
1 paper
NM_001370259.2
p.L168_L170delFs
c.503_510del8
15 papers
NM_001370259.2
p.D172Y
c.514G>T
1 paper
NM_001370259.2
p.D172H
c.514G>C
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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."