Varaico: Literature-Extracted Genetic Variants

Gene:NKX1-1
Variant:p.Q20R

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
3 papers
NM_001290079.1
p.Q20R
c.59A>G
Surrounding Variants
1 paper
NM_001290079.1
p.G40A
c.119G>C
1 paper
NM_001290079.1
p.P45T
c.133C>A
1 paper
NM_001290079.1
p.L55L
c.165C>T
1 paper
NM_001290079.1
p.R78H
c.233G>A
1 paper
NM_001290079.1
p.C111Y
c.332G>A
1 paper
NM_001290079.1
p.A112S
c.334G>T
1 paper
NM_001290079.1
p.A112T
c.334G>A
1 paper
NM_001290079.1
p.A115T
c.343G>A
1 paper
NM_001290079.1
p.A117T
c.349G>A
1 paper
NM_001290079.1
p.L140L
c.420C>G
1 paper
NM_001290079.1
p.G145E
c.434G>A
1 paper
NM_001290079.1
p.T204fs
c.610_611fs
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