Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.I228_H229del2

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.I228_H229del2
c.682_686del6
Surrounding Variants
2 papers
NM_001079668.3
p.L230P
c.689T>C
1 paper
NM_001079668.3
p.I228S
c.683T>G
4 papers
NM_003317.4
p.P202L
c.605C>T
1 paper
NM_001079668.3
p.M227L
c.679A>C
2 papers
NM_003317.4
p.T203R
c.608C>G
NM_001079668.3
p.T233R
c.698C>G
1 paper
NM_001079668.3
p.T233T
c.699G>C
2 papers
NM_001079668.3
p.Q234L
c.701A>T
1 paper
NM_003317.4
p.Q204H
c.612G>C
1 paper
NM_001079668.3
p.A225V
c.674C>T
1 paper
NM_003317.4
p.L194_A195insFs
c.582_583insGG
1 paper
NM_003317.4
p.A195D
c.584C>A
4 papers
NM_003317.4
p.V205F
c.613G>T
NM_001079668.3
p.V235F
c.703G>T
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