Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.S55T

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.S55T
c.164G>C
Surrounding Variants
1 paper
NM_005515.4
p.G46_T54del0
c.138_161del24
2 papers
NM_005515.4
p.G53_T54insC
c.157_161ins3
1 paper
NM_005515.4
p.C58delFs
c.172_173delCA
2 papers
NM_005515.4
p.G49del1
c.145_146delCCC
2 papers
NM_005515.4
p.G48_G49del1
c.144_146delCCG
1 paper
NM_005515.4
p.G49R
c.145G>A
2 papers
NM_005515.4
p.S62A
c.184T>G
1 paper
NM_005515.4
p.S62C
c.185C>G
1 paper
NM_005515.4
p.G46R
c.136G>C
1 paper
NM_005515.4
p.G45S
c.133G>A
1 paper
NM_005515.4
p.G44insFs
c.131_132insC
1 paper
NM_005515.4
p.G44A
c.131G>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."