Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.A38_S39delins

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.A38_S39delins
c.114_115delinsCG
Surrounding Variants
1 paper
NM_005515.4
p.S39delins
c.115delinsC
1 paper
NM_005515.4
p.A38insFs
c.113dupC
1 paper
NM_005515.4
p.S39delFs
c.117delA
1 paper
NM_005515.4
p.G40A
c.119G>C
1 paper
NM_005515.4
p.G40_T41delFs
c.118_121del4
2 papers
NM_005515.4
p.G42*
c.124G>T
1 paper
NM_005515.4
p.G42insFs
c.125_126ins4
1 paper
NM_005515.4
p.G43D
c.128G>A
2 papers
NM_005515.4
p.L34P
c.101T>C
1 paper
NM_005515.4
p.G44ins2
c.130_131ins6
2 papers
NM_005515.4
p.G44insFs
c.130_131insC
1 paper
NM_005515.4
p.L34F
c.100C>T
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