Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.P78delFs

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
2 papers
NM_005515.4
p.P78delFs
c.234delC
Surrounding Variants
1 paper
NM_005515.4
p.A75fs
c.223_224fs
1 paper
NM_005515.4
p.C88*
c.264C>A
2 papers
NM_005515.4
p.C88_A89insFs
c.264_265insC
1 paper
NM_005515.4
p.S62C
c.185C>G
2 papers
NM_005515.4
p.S62A
c.184T>G
1 paper
NM_005515.4
p.G98fs
c.292_293fs
1 paper
NM_005515.4
p.G98delFs
c.293delC
1 paper
NM_005515.4
p.C58delFs
c.172_173delCA
1 paper
NM_005515.4
p.G100fs
c.298_299fs
1 paper
NM_005515.4
p.G100delFs
c.298_299delCC
2 papers
NM_005515.4
p.S55T
c.164G>C
1 paper
NM_005515.4
p.G102G
c.306C>G
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