Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.A275_T276insFs

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.A275_T276insFs
c.825_826insA
Surrounding Variants
1 paper
NM_005515.4
p.A275T
c.823G>A
1 paper
NM_005515.4
p.L278P
c.833T>C
6 papers
NM_005515.4
p.F272L
c.816C>G
6 papers
NM_005515.4
p.F272L
c.816C>A
6 papers
NM_005515.4
p.F272L
c.814T>C
1 paper
NM_005515.4
p.E282K
c.844G>A
1 paper
NM_005515.4
p.Q284Q
c.852G>A
3 papers
NM_005515.4
p.Q284_V285Splc
c.852+1G>A
1 paper
NM_005515.4
p.K264_Y265insFs
c.792_793insA
1 paper
NM_005515.4
p.F260_K261del0
c.778_783del6
1 paper
NM_005515.4
p.F260_K261delins
c.779_781delinsTGGAGCTGCTGGAGCTGG
1 paper
NM_005515.4
p.L256_H258del0
c.767_772del6
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