Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.S23G

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.S23G
c.67A>G
Surrounding Variants
1 paper
NM_001079668.3
p.S53insFs
c.157_158insC
1 paper
NM_001079668.3
p.E51*
c.151G>T
1 paper
NM_001079668.3
p.E51K
c.151G>A
1 paper
NM_001079668.3
p.E51fs
c.151_152fs
1 paper
NM_001079668.3
p.E51_K56delFs
c.153_166del14
1 paper
NM_003317.4
p.K26insFs
c.77_78dupAA
1 paper
NM_001079668.3
p.V57M
c.169G>A
1 paper
NM_003317.4
p.V27fs
c.79_80fs
2 papers
NM_001079668.3
p.G58S
c.172G>A
2 papers
NM_001079668.3
p.M59fs
c.175_176fs
NM_003317.4
p.M29fs
c.85_86fs
1 paper
NM_001079668.3
p.M59I
c.177G>T
1 paper
NM_001079668.3
p.M59I
c.177G>C
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