Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-8
Variant:p.F214L

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.F214L
c.642C>A
Surrounding Variants
1 paper
NM_014360.4
p.F214L
c.642C>G
1 paper
NM_014360.4
p.F214L
c.640T>C
1 paper
NM_014360.4
p.P232P
c.696C>G
1 paper
NM_014360.4
p.W239*
c.716G>A
1 paper
NM_014360.4
p.W239*
c.717G>A
1 paper
NM_014360.4
p.V189L
c.565G>T
1 paper
NM_014360.4
p.V189L
c.565G>C
1 paper
NM_014360.4
p.*240*
c.719G>A
1 paper
NM_014360.4
p.G187del1
c.559_560delGCC
1 paper
NM_014360.4
p.G186_G187ins1
c.558_559insCGG
1 paper
NM_014360.4
p.C181_G182del1
c.542_544delCGC
1 paper
NM_014360.4
p.G183R
c.547G>C
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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."