Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.P351insFs

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.P351insFs
c.1053dupA
Surrounding Variants
9 papers
NM_003317.4
p.G322S
c.964G>A
NM_001079668.3
p.G352S
c.1054G>A
1 paper
NM_001079668.3
p.G352fs
c.1054_1055fs
1 paper
NM_001079668.3
p.Q350_P351delFs
c.1050_1051delGC
1 paper
NM_001079668.3
p.A345_H349delFs
c.1034_1047del14
2 papers
NM_001079668.3
p.Q350fs
c.1048_1049fs
1 paper
NM_001079668.3
p.A354V
c.1061C>T
1 paper
NM_001079668.3
p.G348_H349insFs
c.1044_1045insC
1 paper
NM_001079668.3
p.G348_H349Fs
c.1043_1045delinsTFs
1 paper
NM_001079668.3
p.G355insFs
c.1064_1065insT
1 paper
NM_001079668.3
p.G348S
c.1042G>A
1 paper
NM_001079668.3
p.Q356L
c.1067A>T
1 paper
NM_001079668.3
p.S357insFs
c.1069dupT
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