Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-8

NKX2-8

32 papers

RefSeq Summary

The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increase...

Pfam Domains

Homeodomainaa 85–141UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 8

HGNC Previous Symbol

NKX2H

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
3 papers
NM_014360.4
p.S62T
c.185G>C
2 papers
NM_014360.4
p.E60*
c.178G>T
2 papers
NM_014360.4
p.A94T
c.280G>A
1 paper
NM_014360.4
p.A22S
c.64G>T
1 paper
NM_014360.4
p.P26P
c.78G>C
1 paper
NM_014360.4
p.A34V
c.101C>T
1 paper
NM_014360.4
p.D38delFs
c.112delC
1 paper
NM_014360.4
p.A41A
c.123C>T
1 paper
NM_014360.4
p.A41delFs
c.123delG
1 paper
NM_014360.4
p.R48C
c.142C>T
1 paper
NM_014360.4
p.H50Q
c.150C>A
1 paper
NM_014360.4
p.S53Y
c.158C>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."