Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.H179Q

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.H179Q
c.537C>G
Surrounding Variants
1 paper
NM_005515.4
p.H179Q
c.537C>A
2 papers
NM_005515.4
p.A181T
c.541G>A
1 paper
NM_005515.4
p.A181E
c.542C>A
1 paper
NM_005515.4
p.G177D
c.530G>A
3 papers
NM_005515.4
p.A174del1
c.520_521delCGC
1 paper
NM_005515.4
p.A172_A173del2
c.514_518del6
3 papers
NM_005515.4
p.Y184*
c.552C>G
3 papers
NM_005515.4
p.Y184*
c.552C>A
1 paper
NM_005515.4
p.A174V
c.521C>T
2 papers
NM_005515.4
p.S185*
c.554C>A
4 papers
NM_005515.4
p.A172_A173del1
c.516_518delGCC
1 paper
NM_005515.4
p.A173G
c.518C>G
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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."