Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q234_V235delFs

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.Q234_V235delFs
c.702_703delCC
Surrounding Variants
1 paper
NM_001079668.3
p.V235G
c.704T>G
4 papers
NM_003317.4
p.V205F
c.613G>T
NM_001079668.3
p.V235F
c.703G>T
1 paper
NM_003317.4
p.Q204H
c.612G>C
3 papers
NM_001079668.3
p.K236E
c.706A>G
NM_003317.4
p.K206E
c.616A>G
1 paper
NM_001079668.3
p.V235delFs
c.705delG
2 papers
NM_001079668.3
p.Q234L
c.701A>T
1 paper
NM_001079668.3
p.T233T
c.699G>C
7 papers
NM_001079668.3
p.I237F
c.709A>T
NM_003317.4
p.I207F
c.619A>T
1 paper
NM_001079668.3
p.Q234_K236delFs
c.702_708del7
2 papers
NM_003317.4
p.T203R
c.608C>G
NM_001079668.3
p.T233R
c.698C>G
3 papers
NM_001079668.3
p.I237M
c.711C>G
1 paper
NM_001079668.3
p.W238fs
c.712_713fs
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