Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.G148S

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.G148S
c.442G>A
Surrounding Variants
2 papers
NM_005515.4
p.G144_A146del3
c.430_437del9
1 paper
NM_005515.4
p.G149D
c.446G>A
1 paper
NM_005515.4
p.G145delFs
c.434delC
1 paper
NM_005515.4
p.G145A
c.434G>C
1 paper
NM_005515.4
p.G145R
c.433G>C
1 paper
NM_005515.4
p.G151fs
c.451_452fs
1 paper
NM_005515.4
p.G145fs
c.433_434fs
1 paper
NM_005515.4
p.G151V
c.452G>T
1 paper
NM_005515.4
p.H142Y
c.424C>T
1 paper
NM_005515.4
p.L139L
c.417G>C
1 paper
NM_005515.4
p.A156V
c.467C>T
1 paper
NM_005515.4
p.L139V
c.415C>G
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