Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A327_Q328del2

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.A327_Q328del2
c.979_983del6
Surrounding Variants
1 paper
NM_001079668.3
p.A326_A330del0
c.977_988del12
1 paper
NM_001079668.3
p.A329insFs
c.986_987insG
1 paper
NM_001079668.3
p.A332V
c.995C>T
1 paper
NM_001079668.3
p.A327fs
c.979_980fs
1 paper
NM_003317.4
p.A296fs
c.886_887fs
1 paper
NM_001079668.3
p.H322_Q325del0
c.964_975del12
1 paper
NM_001079668.3
p.S335Fs
c.1003delinsGAFs
1 paper
NM_003317.4
p.Q289_Q295Fs
c.866_883delinsCTACAFs
1 paper
NM_003317.4
p.S305fs
c.913_914fs
1 paper
NM_001079668.3
p.H322_Q323del2
c.964_968del6
1 paper
NM_003317.4
p.H292_Q293delFs
c.876_877delGG
2 papers
NM_001079668.3
p.G337S
c.1009G>A
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