Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-6

NKX2-6

41 papers

RefSeq Summary

This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been...

Pfam Domains

Homeodomainaa 133–189UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 6

HGNC Alias Symbols

CSX2; NKX4-2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
6 papers
NM_001136271.3
p.F151L
c.453C>G
6 papers
NM_001136271.3
p.F151L
c.453C>A
5 papers
NM_001136271.3
p.F151L
c.451T>C
4 papers
NM_001136271.3
p.Q170*
c.508C>T
3 papers
NM_001136271.3
p.F151_K152insFs
c.453_454insT
3 papers
NM_001136271.3
p.Q175H
c.525G>T
3 papers
NM_001136271.3
p.Q175H
c.525G>C
3 papers
NM_001136271.3
p.R299G
c.895A>G
2 papers
NM_001136271.3
p.G61S
c.181G>A
2 papers
NM_001136271.3
p.V80L
c.238G>C
2 papers
NM_001136271.3
p.R120P
c.359G>C
2 papers
NM_001136271.3
p.R150C
c.448C>T
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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."