Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G74G

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.G74G
c.222C>G
Surrounding Variants
1 paper
NM_001079668.3
p.G74G
c.222C>A
1 paper
NM_001079668.3
p.G74V
c.221G>T
1 paper
NM_001079668.3
p.G74D
c.221G>A
1 paper
NM_001079668.3
p.A76fs
c.226_227fs
1 paper
NM_001079668.3
p.A77E
c.230C>A
1 paper
NM_001079668.3
p.A76_A77delFs
c.228_229delCC
1 paper
NM_001079668.3
p.Y71*
c.213C>A
1 paper
NM_001079668.3
p.P78T
c.232C>A
2 papers
NM_001079668.3
p.Y71_A77delFs
c.213_229del17
1 paper
NM_001079668.3
p.P79Q
c.236C>A
1 paper
NM_001079668.3
p.A69E
c.206C>A
1 paper
NM_001079668.3
p.A69fs
c.205_206fs
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