Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A345S

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.A345S
c.1033G>T
Surrounding Variants
1 paper
NM_001079668.3
p.A345T
c.1033G>A
1 paper
NM_001079668.3
p.H346Y
c.1036C>T
1 paper
NM_003317.4
p.H316_P317ins4
c.946_950ins12
1 paper
NM_001079668.3
p.G344fs
c.1030_1031fs
1 paper
NM_001079668.3
p.G348S
c.1042G>A
1 paper
NM_001079668.3
p.G342S
c.1024G>A
2 papers
NM_001079668.3
p.A341V
c.1022C>T
1 paper
NM_001079668.3
p.G348_H349Fs
c.1043_1045delinsTFs
1 paper
NM_001079668.3
p.G348_H349insFs
c.1044_1045insC
2 papers
NM_001079668.3
p.Q350fs
c.1048_1049fs
1 paper
NM_001079668.3
p.G339fs
c.1015_1016fs
1 paper
NM_001079668.3
p.G339insFs
c.1016_1017ins19
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