Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.R287H

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.R287H
c.860G>A
Surrounding Variants
1 paper
NM_001079668.3
p.R287L
c.860G>T
5 papers
NM_001079668.3
p.R287insFs
c.859_860insC
1 paper
NM_001079668.3
p.R287insFs
c.859_860ins17
1 paper
NM_001079668.3
p.R287R
c.861C>T
1 paper
NM_001079668.3
p.R287insFs
c.859_860ins4
1 paper
NM_001079668.3
p.R287fs
c.859_860fs
1 paper
NM_001079668.3
p.V288M
c.862G>A
1 paper
NM_001079668.3
p.V288V
c.864G>C
1 paper
NM_001079668.3
p.A289T
c.865G>A
1 paper
NM_001079668.3
p.A289E
c.866C>A
1 paper
NM_003317.4
p.P255_R256insG
c.763_767ins3
1 paper
NM_001079668.3
p.V290insFs
c.868_869ins7
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