Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G270W

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.G270W
c.808G>T
Surrounding Variants
2 papers
NM_001079668.3
p.G271fs
c.811_812fs
1 paper
NM_001079668.3
p.G268insFs
c.803_804ins26
1 paper
NM_001079668.3
p.G271_T272ins3
c.813_814ins9
1 paper
NM_001079668.3
p.G268R
c.802G>C
1 paper
NM_001079668.3
p.T272fs
c.814_815fs
4 papers
NM_001079668.3
p.G265ins3
c.793_794ins9
3 papers
NM_001079668.3
p.G271del1
c.811_812delGCC
7 papers
NM_001079668.3
p.G266del1
c.796_797delGCC
1 paper
NM_001079668.3
p.T272I
c.815C>T
1 paper
NM_001079668.3
p.G267ins2
c.800_801ins6
1 paper
NM_001079668.3
p.T272fs
c.814_815fs
1 paper
NM_001079668.3
p.G273R
c.817G>C
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