Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.V113M

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.V113M
c.337G>A
Surrounding Variants
2 papers
NM_001079668.3
p.A112_V113delFs
c.336_337delCG
2 papers
NM_001079668.3
p.A112S
c.334G>T
1 paper
NM_003317.4
p.G84E
c.251G>A
1 paper
NM_001079668.3
p.G115fs
c.343_344fs
5 papers
NM_003317.4
p.G85insFs
c.254dupG
NM_001079668.3
p.G115insFs
c.344dupG
1 paper
NM_001079668.3
p.G115fs
c.343_344fs
3 papers
NM_001079668.3
p.G115delFs
c.344delC
1 paper
NM_001079668.3
p.S109_H110delFs
c.327_328delGC
1 paper
NM_001079668.3
p.S109fs
c.325_326fs
1 paper
NM_001079668.3
p.L108delFs
c.322_323delAG
1 paper
NM_001079668.3
p.Y116C
c.347A>G
3 papers
NM_001079668.3
p.Y116*
c.348C>G
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