Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.H223Q

NKX2-1

495 papers

RefSeq Summary

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific ge...

Pfam Domains

Homeodomainaa 162–218UCSCHomeodomain
Homeodomainaa 162–218UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 1

HGNC Previous Symbols

NKX2A; BCH; TITF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079668.3
p.H223Q
c.669C>A
Surrounding Variants
1 paper
NM_001079668.3
p.H223Q
c.669C>G
8 papers
NM_001079668.3
p.L224R
c.671T>G
NM_003317.4
p.L194R
c.581T>G
1 paper
NM_001079668.3
p.L224P
c.671T>C
1 paper
NM_001079668.3
p.E222E
c.666G>A
1 paper
NM_001079668.3
p.E222V
c.665A>T
1 paper
NM_001079668.3
p.E222Q
c.664G>C
1 paper
NM_001079668.3
p.A225V
c.674C>T
1 paper
NM_003317.4
p.L194_A195insFs
c.582_583insGG
1 paper
NM_003317.4
p.A195D
c.584C>A
2 papers
NM_003317.4
p.R191L
c.572G>T
NM_001079668.3
p.R221L
c.662G>T
1 paper
NM_001079668.3
p.E220delFs
c.658_659delTC
1 paper
NM_001079668.3
p.M227L
c.679A>C
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