Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.M1T

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
3 papers
NM_005515.4
p.M1T
c.2T>C
Surrounding Variants
3 papers
NM_005515.4
p.M1I
c.3G>T
1 paper
NM_005515.4
p.M1_E2insFs
c.3_4insA
3 papers
NM_005515.4
p.M1I
c.3G>C
3 papers
NM_005515.4
p.M1I
c.3G>A
1 paper
NM_005515.4
p.E2K
c.4G>A
1 paper
NM_005515.4
p.M1insFs
c.3dupG
1 paper
NM_005515.4
p.K3I
c.8A>T
1 paper
NM_005515.4
p.K3_S4insFs
c.9_10insA
1 paper
NM_005515.4
p.F7delFs
c.19delA
1 paper
NM_005515.4
p.I9_D10insA
c.25_29ins3
5 papers
NM_005515.4
p.P18insFs
c.53dupC
1 paper
NM_005515.4
p.P18fs
c.52_53fs
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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."