Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G266fs

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
3 papers
NM_001079668.3
p.G266fs
c.796_797fs
NM_003317.4
p.G236fs
c.706_707fs
Surrounding Variants
1 paper
NM_003317.4
p.G235delFs
c.705delG
1 paper
NM_003317.4
p.G236fs
c.706_707fs
1 paper
NM_003317.4
p.G235C
c.703G>T
1 paper
NM_001079668.3
p.G264_G266delFs
c.792_798del7
1 paper
NM_001079668.3
p.G267ins2
c.800_801ins6
7 papers
NM_001079668.3
p.G266del1
c.796_797delGCC
1 paper
NM_001079668.3
p.G264_G265insGGG
c.790_794ins9
1 paper
NM_001079668.3
p.G268R
c.802G>C
1 paper
NM_001079668.3
p.G268insFs
c.803_804ins26
1 paper
NM_001079668.3
p.S263S
c.789C>T
3 papers
NM_001079668.3
p.D262_S263delFs
c.786_787delTG
1 paper
NM_001079668.3
p.G270W
c.808G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."