Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q317*

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.Q317*
c.949C>T
Surrounding Variants
2 papers
NM_001079668.3
p.Q317fs
c.949_950fs
1 paper
NM_001079668.3
p.A316insFs
c.947_948insC
1 paper
NM_001079668.3
p.Q317R
c.950A>G
4 papers
NM_003317.4
p.Q287insFs
c.859_860insC
NM_001079668.3
p.Q317insFs
c.859dupC
1 paper
NM_001079668.3
p.Q317fs
c.949_950fs
1 paper
NM_001079668.3
p.A316T
c.946G>A
1 paper
NM_001079668.3
p.Q318fs
c.952_953fs
1 paper
NM_001079668.3
p.A316_Q318Fs
c.948_954delinsAGCACFs
1 paper
NM_001079668.3
p.G314S
c.940G>A
1 paper
NM_001079668.3
p.Q321*
c.961C>T
1 paper
NM_001079668.3
p.Q321P
c.962A>C
1 paper
NM_003317.4
p.H292_Q293delFs
c.876_877delGG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."