Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.E126ins2

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.E126ins2
c.376_377ins6
Surrounding Variants
1 paper
NM_001079668.3
p.M124V
c.370A>G
6 papers
NM_001079668.3
p.Y130*
c.390C>G
5 papers
NM_001079668.3
p.Y130*
c.390C>A
1 paper
NM_001079668.3
p.Q131K
c.391C>A
1 paper
NM_001079668.3
p.L121Fs
c.361delinsGAAFs
1 paper
NM_003317.4
p.G84_N90del7
c.250_269del21
1 paper
NM_001079668.3
p.P128_Q131delFs
c.384_391del8
1 paper
NM_001079668.3
p.N120S
c.359A>G
1 paper
NM_001079668.3
p.D132delFs
c.394delC
3 papers
NM_001079668.3
p.D132E
c.396C>G
NM_003317.4
p.D102E
c.306C>G
3 papers
NM_001079668.3
p.D132E
c.396C>A
NM_003317.4
p.D102E
c.306C>A
1 paper
NM_001079668.3
p.T133fs
c.397_398fs
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