Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G65R

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.G65R
c.193G>C
Surrounding Variants
1 paper
NM_001079668.3
p.G65R
c.193G>A
1 paper
NM_001079668.3
p.M59_L64delFs
c.175_190del16
2 papers
NM_001079668.3
p.L64I
c.190C>A
1 paper
NM_001079668.3
p.P67S
c.199C>T
1 paper
NM_001079668.3
p.G62S
c.184G>A
1 paper
NM_003317.4
p.G28_E30delFs
c.84_90del7
1 paper
NM_001079668.3
p.A69fs
c.205_206fs
1 paper
NM_001079668.3
p.A69E
c.206C>A
1 paper
NM_001079668.3
p.M59delFs
c.177delC
1 paper
NM_001079668.3
p.M59I
c.177G>T
1 paper
NM_001079668.3
p.M59I
c.177G>C
1 paper
NM_001079668.3
p.M59I
c.177G>A
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