Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A341V

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
2 papers
NM_001079668.3
p.A341V
c.1022C>T
Surrounding Variants
1 paper
NM_001079668.3
p.G342S
c.1024G>A
1 paper
NM_001079668.3
p.G339fs
c.1015_1016fs
1 paper
NM_001079668.3
p.G339insFs
c.1016_1017ins19
1 paper
NM_001079668.3
p.G339insFs
c.1016_1017ins14
1 paper
NM_001079668.3
p.G344fs
c.1030_1031fs
2 papers
NM_001079668.3
p.V336_G337del2
c.1006_1010del6
1 paper
NM_001079668.3
p.A345S
c.1033G>T
1 paper
NM_001079668.3
p.A345T
c.1033G>A
1 paper
NM_003317.4
p.G307fs
c.919_920fs
2 papers
NM_001079668.3
p.V336_G337del1
c.1007_1009delCCA
2 papers
NM_001079668.3
p.G337S
c.1009G>A
1 paper
NM_001079668.3
p.H346Y
c.1036C>T
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