Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.D132E

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
3 papers
NM_001079668.3
p.D132E
c.396C>A
NM_003317.4
p.D102E
c.306C>A
Surrounding Variants
3 papers
NM_001079668.3
p.D132E
c.396C>G
NM_003317.4
p.D102E
c.306C>G
1 paper
NM_001079668.3
p.T133fs
c.397_398fs
1 paper
NM_001079668.3
p.D132delFs
c.394delC
1 paper
NM_001079668.3
p.T133insFs
c.397dupA
1 paper
NM_001079668.3
p.T133T
c.399C>T
1 paper
NM_003317.4
p.N93_D102delFs
c.278_306del29
1 paper
NM_001079668.3
p.T133delFs
c.399delG
1 paper
NM_001079668.3
p.P128_Q131delFs
c.384_391del8
1 paper
NM_001079668.3
p.Q131K
c.391C>A
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.Q131_M134del4
c.391_401del12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."