Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G177E

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.G177E
c.530G>A
Surrounding Variants
1 paper
NM_003317.4
p.G147A
c.440G>C
1 paper
NM_001079668.3
p.G177R
c.529G>C
1 paper
NM_001079668.3
p.G177R
c.529G>A
3 papers
NM_001079668.3
p.S175_L176del2
c.523_527del6
3 papers
NM_001079668.3
p.D178N
c.532G>A
4 papers
NM_001079668.3
p.L176V
c.526C>G
1 paper
NM_001079668.3
p.S175delFs
c.525delC
1 paper
NM_001079668.3
p.S175L
c.524C>T
7 papers
NM_001079668.3
p.S175*
c.524C>A
1 paper
NM_001079668.3
p.G174delFs
c.522delG
1 paper
NM_001079668.3
p.G174G
c.522C>T
1 paper
NM_001079668.3
p.G174G
c.522C>G
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