Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.N236T

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
2 papers
NM_005515.4
p.N236T
c.707A>C
Surrounding Variants
1 paper
NM_005515.4
p.S231A
c.691T>G
1 paper
NM_005515.4
p.C241*
c.723C>A
6 papers
NM_005515.4
p.R243W
c.727C>T
4 papers
NM_005515.4
p.F248L
c.742T>C
4 papers
NM_005515.4
p.F248L
c.744C>G
4 papers
NM_005515.4
p.F248L
c.744C>A
1 paper
NM_005515.4
p.F248_Q251delFs
c.742_751del10
1 paper
NM_005515.4
p.Q252K
c.754C>A
1 paper
NM_005515.4
p.S231Splc
c.692-38G>A
1 paper
NM_005515.4
p.L254P
c.761T>C
1 paper
NM_005515.4
p.L256_H258del0
c.767_772del6
1 paper
NM_005515.4
p.F260_K261delins
c.779_781delinsTGGAGCTGCTGGAGCTGG
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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."