Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Y144*

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
6 papers
NM_001079668.3
p.Y144*
c.432C>G
NM_003317.4
p.Y114*
c.342C>G
Surrounding Variants
1 paper
NM_003317.4
p.Y114fs
c.340_341fs
7 papers
NM_001079668.3
p.Y144*
c.432C>A
NM_003317.4
p.Y114*
c.342C>A
1 paper
NM_003317.4
p.W113delFs
c.339delC
8 papers
NM_001079668.3
p.W143*
c.429G>A
NM_003317.4
p.W113*
c.339G>A
1 paper
NM_003317.4
p.G115insFs
c.344dupG
8 papers
NM_001079668.3
p.W143*
c.428G>A
NM_003317.4
p.W113*
c.338G>A
1 paper
NM_001079668.3
p.A146T
c.436G>A
2 papers
NM_001079668.3
p.A146V
c.437C>T
1 paper
NM_003317.4
p.A116D
c.347C>A
1 paper
NM_001079668.3
p.N147fs
c.439_440fs
1 paper
NM_001079668.3
p.N147H
c.439A>C
1 paper
NM_003317.4
p.A116delFs
c.348delG
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