Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.S79*

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_003317.4
p.S79*
c.236C>A
Surrounding Variants
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.L108delFs
c.322delG
1 paper
NM_001079668.3
p.S109_H110delFs
c.327_328delGC
4 papers
NM_001079668.3
p.Q107*
c.319C>T
2 papers
NM_001079668.3
p.A112S
c.334G>T
1 paper
NM_001079668.3
p.P106L
c.317C>T
1 paper
NM_001079668.3
p.V105_P106insFs
c.313_316dup4
1 paper
NM_001079668.3
p.V113M
c.337G>A
1 paper
NM_003317.4
p.V75insFs
c.223dupG
2 papers
NM_001079668.3
p.A112_V113delFs
c.336_337delCG
1 paper
NM_001079668.3
p.V105M
c.313G>A
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