Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.K181delFs

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.K181delFs
c.542delT
Surrounding Variants
2 papers
NM_001079668.3
p.K181fs
c.541_542fs
1 paper
NM_001079668.3
p.N182T
c.545A>C
2 papers
NM_001079668.3
p.K181_N182delFs
c.543_546del4
2 papers
NM_001079668.3
p.P185fs
c.553_554fs
3 papers
NM_001079668.3
p.D178N
c.532G>A
1 paper
NM_001079668.3
p.P185R
c.554C>G
2 papers
NM_001079668.3
p.P185delFs
c.554delG
1 paper
NM_003317.4
p.G147A
c.440G>C
1 paper
NM_001079668.3
p.G177E
c.530G>A
4 papers
NM_001079668.3
p.L186fs
c.556_557fs
1 paper
NM_001079668.3
p.K181_L186insFs
c.541_556dup16
1 paper
NM_001079668.3
p.V179_L186insFs
c.535_556dup22
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