Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.L139L

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.L139L
c.417G>C
Surrounding Variants
1 paper
NM_005515.4
p.L139V
c.415C>G
2 papers
NM_005515.4
p.A138_L139insFs
c.414_415insG
1 paper
NM_005515.4
p.A138insFs
c.413_414insG
1 paper
NM_005515.4
p.A138E
c.413C>A
1 paper
NM_005515.4
p.A138P
c.412G>C
1 paper
NM_005515.4
p.H142Y
c.424C>T
1 paper
NM_005515.4
p.A133_G135ins1
c.398_403dup6
1 paper
NM_005515.4
p.G135A
c.404G>C
1 paper
NM_005515.4
p.A134del1
c.400_401delAGC
1 paper
NM_005515.4
p.A133_A134ins0
c.399_401dupCGC
2 papers
NM_005515.4
p.A134_G135ins2
c.402_403ins6
1 paper
NM_005515.4
p.A134_G135ins3
c.402_403ins9
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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."