Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.H193Q

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.H193Q
c.579C>A
Surrounding Variants
1 paper
NM_005515.4
p.H193Q
c.579C>G
2 papers
NM_005515.4
p.A192E
c.575C>A
1 paper
NM_005515.4
p.Y186_A192Fs
c.558_575delinsGGAGTAGCGGGCCAFs
2 papers
NM_005515.4
p.A195_A198del0
c.585_593del9
1 paper
NM_005515.4
p.Q188E
c.562C>G
1 paper
NM_005515.4
p.Y186*
c.558C>G
1 paper
NM_005515.4
p.Y186*
c.558C>A
1 paper
NM_005515.4
p.I201F
c.601A>T
2 papers
NM_005515.4
p.S185*
c.554C>A
1 paper
NM_005515.4
p.K202T
c.605A>C
3 papers
NM_005515.4
p.Y184*
c.552C>G
3 papers
NM_005515.4
p.Y184*
c.552C>A
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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."