Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.F210L

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.F210L
c.628T>C
Surrounding Variants
1 paper
NM_001079668.3
p.R209fs
c.625_626fs
5 papers
NM_001079668.3
p.R209P
c.626G>C
1 paper
NM_001079668.3
p.R209H
c.626G>A
1 paper
NM_001079668.3
p.F210L
c.630C>G
1 paper
NM_001079668.3
p.F210L
c.630C>A
1 paper
NM_003317.4
p.K181fs
c.541_542fs
4 papers
NM_001079668.3
p.K211*
c.631A>T
2 papers
NM_001079668.3
p.K211E
c.631A>G
1 paper
NM_001079668.3
p.K211R
c.632A>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
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."