Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.A125fs

MNX1

151 papers

RefSeq Summary

This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation....

Pfam Domains

Homeodomainaa 242–298UCSCHomeodomain

Gene Aliases

HGNC Name

motor neuron and pancreas homeobox 1

HGNC Previous Symbol

HLXB9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005515.4
p.A125fs
c.373_374fs
Surrounding Variants
1 paper
NM_005515.4
p.A125_A126ins4
c.373_377ins12
1 paper
NM_005515.4
p.A124A
c.372T>C
1 paper
NM_005515.4
p.A125insFs
c.373_374insGC
1 paper
NM_005515.4
p.A123A
c.369C>T
1 paper
NM_005515.4
p.A123G
c.368C>G
1 paper
NM_005515.4
p.A126_A127ins2
c.378_379ins6
1 paper
NM_005515.4
p.A127T
c.379G>A
1 paper
NM_005515.4
p.A127G
c.380C>G
1 paper
NM_005515.4
p.H118_A121del4
c.352_362del12
1 paper
NM_005515.4
p.A128A
c.384C>A
1 paper
NM_005515.4
p.A129_A130ins2
c.387_388ins6
1 paper
NM_005515.4
p.A130_A131insC
c.388_392ins3
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