Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-8
Variant:p.S53Y

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
Selected Variant
1 paper
NM_014360.4
p.S53Y
c.158C>A
Surrounding Variants
2 papers
NM_014360.4
p.E60*
c.178G>T
3 papers
NM_014360.4
p.S62T
c.185G>C
1 paper
NM_014360.4
p.S67W
c.200C>G
1 paper
NM_014360.4
p.S71Y
c.212C>A
1 paper
NM_014360.4
p.R84G
c.250A>G
1 paper
NM_014360.4
p.R88L
c.263G>T
1 paper
NM_014360.4
p.V89G
c.266T>G
2 papers
NM_014360.4
p.A94T
c.280G>A
1 paper
NM_014360.4
p.K93_A94delFs
c.278_281del4
1 paper
NM_014360.4
p.R102R
c.306C>G
1 paper
NM_014360.4
p.R107W
c.319C>T
1 paper
NM_014360.4
p.A111E
c.332C>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."