Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.S20_S21insFs

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.S20_S21insFs
c.60_61insG
Surrounding Variants
1 paper
NM_001079668.3
p.S20T
c.59G>C
1 paper
NM_001079668.3
p.P22L
c.65C>T
1 paper
NM_001079668.3
p.P22P
c.66C>A
3 papers
NM_001079668.3
p.G23R
c.67G>C
1 paper
NM_001079668.3
p.G23D
c.68G>A
1 paper
NM_001079668.3
p.G18R
c.52G>A
1 paper
NM_001079668.3
p.R24fs
c.70_71fs
1 paper
NM_001079668.3
p.L25F
c.73C>T
1 paper
NM_001079668.3
p.A15T
c.43G>A
1 paper
NM_001079668.3
p.A14insFs
c.40_41insC
1 paper
NM_001079668.3
p.A14fs
c.40_41fs
1 paper
NM_001079668.3
p.E13*
c.37G>T
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