Varaico: Literature-Extracted Genetic Variants

Gene:NKX1-1
Variant:p.G217_G218delFs

NKX1-1

15 papers

RefSeq Summary

This gene encodes a transcription factor that belongs to NKX family of homeodomain-containing proteins which are critical regulators of organ development. In mice, the orthologous gene is expressed pr...

Pfam Domains

Homeodomainaa 297–353UCSCHomeodomain

Gene Aliases

HGNC Name

NK1 homeobox 1

HGNC Alias Symbols

HSPX153; SAX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001290079.1
p.G217_G218delFs
c.650_653del4
Surrounding Variants
1 paper
NM_001290079.1
p.G217fs
c.649_650fs
1 paper
NM_001290079.1
p.G215fs
c.643_644fs
1 paper
NM_001290079.1
p.R214_G215insFs
c.642_643insA
1 paper
NM_001290079.1
p.T204_R208delFs
c.610_622del13
1 paper
NM_001290079.1
p.T204fs
c.610_611fs
1 paper
NM_001290079.1
p.T349I
c.1046C>T
1 paper
NM_001290079.1
p.G145E
c.434G>A
1 paper
NM_001290079.1
p.L140L
c.420C>G
1 paper
NM_001290079.1
p.A117T
c.349G>A
1 paper
NM_001290079.1
p.A115T
c.343G>A
1 paper
NM_001290079.1
p.A112S
c.334G>T
1 paper
NM_001290079.1
p.A112T
c.334G>A
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