Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.A29S

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.A29S
c.85G>T
Surrounding Variants
3 papers
NM_005515.4
p.P27L
c.80C>T
1 paper
NM_005515.4
p.A26fs
c.76_77fs
1 paper
NM_005515.4
p.A26delFs
c.77delG
1 paper
NM_005515.4
p.T32K
c.95C>A
1 paper
NM_005515.4
p.L34F
c.100C>T
1 paper
NM_005515.4
p.Q24*
c.70C>T
2 papers
NM_005515.4
p.L34P
c.101T>C
1 paper
NM_005515.4
p.R19fs
c.55_56fs
1 paper
NM_005515.4
p.A38insFs
c.113dupC
1 paper
NM_005515.4
p.S39delins
c.115delinsC
1 paper
NM_005515.4
p.A38_S39delins
c.114_115delinsCG
1 paper
NM_005515.4
p.R19fs
c.55_56fs
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