Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.T207A

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.T207A
c.619A>G
Surrounding Variants
1 paper
NM_005515.4
p.G206D
c.617G>A
1 paper
NM_005515.4
p.K202T
c.605A>C
2 papers
NM_005515.4
p.Q212*
c.634C>T
1 paper
NM_005515.4
p.I201F
c.601A>T
1 paper
NM_005515.4
p.W213*
c.638G>A
1 paper
NM_005515.4
p.W213*
c.639G>A
1 paper
NM_005515.4
p.R215C
c.643C>T
1 paper
NM_005515.4
p.R215H
c.644G>A
2 papers
NM_005515.4
p.A195_A198del0
c.585_593del9
1 paper
NM_005515.4
p.A216fs
c.646_647fs
1 paper
NM_005515.4
p.R215_A216delFs
c.645_648del4
1 paper
NM_005515.4
p.H193Q
c.579C>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."