Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.K181fs

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_003317.4
p.K181fs
c.541_542fs
Surrounding Variants
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.F210L
c.630C>G
1 paper
NM_001079668.3
p.F210L
c.630C>A
1 paper
NM_001079668.3
p.K211R
c.632A>G
1 paper
NM_001079668.3
p.F210L
c.628T>C
3 papers
NM_003317.4
p.Q182*
c.544C>T
NM_001079668.3
p.Q212*
c.634C>T
1 paper
NM_001079668.3
p.R209fs
c.625_626fs
1 paper
NM_001079668.3
p.Q212P
c.635A>C
NM_003317.4
p.Q182P
c.545A>C
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.Q213E
c.637C>G
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