Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.T272_G273delFs

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.T272_G273delFs
c.815_819del5
Surrounding Variants
1 paper
NM_001079668.3
p.G273V
c.818G>T
1 paper
NM_001079668.3
p.G273A
c.818G>C
1 paper
NM_003317.4
p.G243E
c.728G>A
1 paper
NM_001079668.3
p.G273R
c.817G>C
1 paper
NM_001079668.3
p.G273R
c.817G>A
1 paper
NM_001079668.3
p.T272fs
c.814_815fs
1 paper
NM_001079668.3
p.T272I
c.815C>T
1 paper
NM_001079668.3
p.P275delFs
c.825delC
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
1 paper
NM_001079668.3
p.G271_T272ins3
c.813_814ins9
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