Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.M246V

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.M246V
c.736A>G
Surrounding Variants
1 paper
NM_001079668.3
p.M246_K247Fs
c.736_741delinsTGTGTGTGAAGFs
1 paper
NM_001079668.3
p.M246I
c.738G>T
1 paper
NM_001079668.3
p.M246I
c.738G>C
1 paper
NM_001079668.3
p.M246I
c.738G>A
3 papers
NM_001079668.3
p.Y244*
c.732C>G
4 papers
NM_001079668.3
p.Y244*
c.732C>A
NM_003317.4
p.Y214*
c.642C>A
1 paper
NM_001079668.3
p.K247R
c.740A>G
1 paper
NM_001079668.3
p.K247_R248insFs
c.741_742insA
3 papers
NM_003317.4
p.Y214C
c.641A>G
NM_001079668.3
p.Y244C
c.731A>G
1 paper
NM_001079668.3
p.Y244insFs
c.730_731insA
1 paper
NM_001079668.3
p.Y244D
c.730T>G
1 paper
NM_001079668.3
p.Y244H
c.730T>C
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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."