Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.P305_A306insFs

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
2 papers
NM_001079668.3
p.P305_A306insFs
c.915_916insC
Surrounding Variants
1 paper
NM_001079668.3
p.A306_P307insAG
c.916_920ins6
6 papers
NM_003317.4
p.P275delFs
c.825delG
1 paper
NM_003317.4
p.A276fs
c.826_827fs
1 paper
NM_001079668.3
p.A306G
c.917C>G
3 papers
NM_003317.4
p.P275fs
c.823_824fs
1 paper
NM_001079668.3
p.P307S
c.919C>T
1 paper
NM_003317.4
p.G273delFs
c.818delC
1 paper
NM_001079668.3
p.A309S
c.925G>T
1 paper
NM_001079668.3
p.A302V
c.905C>T
1 paper
NM_001079668.3
p.G308insFs
c.923_924dupGC
1 paper
NM_001079668.3
p.A309delFs
c.927delG
1 paper
NM_001079668.3
p.G297_P299delFs
c.890_896del7
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