Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q282*

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.Q282*
c.844C>T
Surrounding Variants
1 paper
NM_001079668.3
p.Q278_Q281del4
c.832_842del12
1 paper
NM_001079668.3
p.G273_A280del0
c.818_838del21
1 paper
NM_001079668.3
p.S284L
c.851C>T
1 paper
NM_001079668.3
p.Q279insFs
c.835_836insC
3 papers
NM_001079668.3
p.Q279*
c.835C>T
NM_003317.4
p.Q249*
c.745C>T
1 paper
NM_003317.4
p.P255_R256insG
c.763_767ins3
1 paper
NM_001079668.3
p.Q278insFs
c.832_833insG
1 paper
NM_001079668.3
p.Q277_Q278insFs
c.831_832insT
1 paper
NM_001079668.3
p.Q277*
c.829C>T
1 paper
NM_001079668.3
p.R287insFs
c.859_860ins4
1 paper
NM_001079668.3
p.R287fs
c.859_860fs
1 paper
NM_001079668.3
p.G271_Q276delFs
c.812_828del17
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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."