Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q240P

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
6 papers
NM_001079668.3
p.Q240P
c.719A>C
NM_003317.4
p.Q210P
c.629A>C
Surrounding Variants
1 paper
NM_001079668.3
p.Q240*
c.718C>T
1 paper
NM_003317.4
p.N211S
c.632A>G
1 paper
NM_001079668.3
p.W238delFs
c.714delC
1 paper
NM_001079668.3
p.N241_H242ins3
c.723_724ins9
4 papers
NM_001079668.3
p.W238*
c.714G>A
9 papers
NM_003317.4
p.W208L
c.623G>T
NM_001079668.3
p.W238L
c.713G>T
3 papers
NM_001079668.3
p.W238S
c.713G>C
NM_003317.4
p.W208S
c.623G>C
3 papers
NM_001079668.3
p.W238*
c.713G>A
1 paper
NM_001079668.3
p.I237delFs
c.710_711delGA
2 papers
NM_001079668.3
p.T233_W238delins
c.698_713delinsAGCAGATCAAGATCTC
1 paper
NM_003317.4
p.H212P
c.635A>C
1 paper
NM_001079668.3
p.W238fs
c.712_713fs
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