Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-6
Variant:p.A129E

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
Selected Variant
1 paper
NM_001136271.3
p.A129E
c.386C>A
Surrounding Variants
1 paper
NM_001136271.3
p.R132Q
c.395G>A
1 paper
NM_001136271.3
p.R123H
c.368G>A
1 paper
NM_001136271.3
p.G121delFs
c.362delC
1 paper
NM_001136271.3
p.G121fs
c.361_362fs
2 papers
NM_001136271.3
p.R120P
c.359G>C
1 paper
NM_001136271.3
p.N114S
c.341A>G
1 paper
NM_001136271.3
p.E109K
c.325G>A
2 papers
NM_001136271.3
p.R150C
c.448C>T
5 papers
NM_001136271.3
p.F151L
c.451T>C
6 papers
NM_001136271.3
p.F151L
c.453C>G
3 papers
NM_001136271.3
p.F151_K152insFs
c.453_454insT
6 papers
NM_001136271.3
p.F151L
c.453C>A
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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."