Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.S217*

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
7 papers
NM_001079668.3
p.S217*
c.650C>A
NM_003317.4
p.S187*
c.560C>A
Surrounding Variants
1 paper
NM_003317.4
p.S187fs
c.559_560fs
1 paper
NM_001079668.3
p.Q212_S217del0
c.636_650del15
1 paper
NM_003317.4
p.L186delFs
c.556delG
1 paper
NM_001079668.3
p.A218G
c.653C>G
1 paper
NM_001079668.3
p.K214ins0
c.640_642dupAAG
5 papers
NM_001079668.3
p.Y215D
c.643T>G
NM_003317.4
p.Y185D
c.553T>G
1 paper
NM_001079668.3
p.E220Q
c.658G>C
1 paper
NM_001079668.3
p.K214R
c.641A>G
1 paper
NM_001079668.3
p.E220delFs
c.658_659delTC
2 papers
NM_003317.4
p.R191L
c.572G>T
NM_001079668.3
p.R221L
c.662G>T
1 paper
NM_001079668.3
p.Q213E
c.637C>G
1 paper
NM_003317.4
p.K181_Q182delFs
c.543_546del4
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