Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.E207*

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.E207*
c.619G>T
Surrounding Variants
1 paper
NM_001079668.3
p.E207K
c.619G>A
1 paper
NM_001079668.3
p.L206fs
c.616_617fs
1 paper
NM_003317.4
p.L176R
c.527T>G
1 paper
NM_001079668.3
p.L206P
c.617T>C
2 papers
NM_001079668.3
p.L206Q
c.617T>A
6 papers
NM_001079668.3
p.R208*
c.622C>T
NM_003317.4
p.R178*
c.532C>T
7 papers
NM_001079668.3
p.L206V
c.616C>G
NM_003317.4
p.L176V
c.526C>G
1 paper
NM_001079668.3
p.R208G
c.622C>G
2 papers
NM_001079668.3
p.R208L
c.623G>T
3 papers
NM_003317.4
p.R178P
c.533G>C
NM_001079668.3
p.R208P
c.623G>C
2 papers
NM_003317.4
p.E175_L176del2
c.523_527del6
9 papers
NM_001079668.3
p.E205*
c.613G>T
NM_003317.4
p.E175*
c.523G>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."