Varaico: Literature-Extracted Genetic Variants

Gene:MNX1

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
1–12 of 226 variants
6 papers
NM_005515.4
p.R243W
c.727C>T
6 papers
NM_005515.4
p.F272L
c.814T>C
6 papers
NM_005515.4
p.F272L
c.816C>G
6 papers
NM_005515.4
p.F272L
c.816C>A
5 papers
NM_005515.4
p.P18insFs
c.53dupC
4 papers
NM_005515.4
p.A172_A173del1
c.516_518delGCC
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
3 papers
NM_005515.4
p.M1T
c.2T>C
3 papers
NM_005515.4
p.M1I
c.3G>T
3 papers
NM_005515.4
p.M1I
c.3G>C
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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."