Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.I228S

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.I228S
c.683T>G
Surrounding Variants
1 paper
NM_001079668.3
p.M227L
c.679A>C
1 paper
NM_001079668.3
p.I228_H229del2
c.682_686del6
2 papers
NM_001079668.3
p.L230P
c.689T>C
1 paper
NM_001079668.3
p.A225V
c.674C>T
1 paper
NM_003317.4
p.L194_A195insFs
c.582_583insGG
1 paper
NM_003317.4
p.A195D
c.584C>A
8 papers
NM_001079668.3
p.L224R
c.671T>G
NM_003317.4
p.L194R
c.581T>G
1 paper
NM_001079668.3
p.L224P
c.671T>C
4 papers
NM_003317.4
p.P202L
c.605C>T
1 paper
NM_001079668.3
p.H223Q
c.669C>G
1 paper
NM_001079668.3
p.H223Q
c.669C>A
2 papers
NM_003317.4
p.T203R
c.608C>G
NM_001079668.3
p.T233R
c.698C>G
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."