Varaico: Literature-Extracted Genetic Variants

Gene:NKX6-1
Variant:p.L230L

NKX6-1

53 papers

RefSeq Summary

In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iy...

Pfam Domains

Homeodomainaa 237–293UCSCHomeodomain

Gene Aliases

HGNC Name

NK6 homeobox 1

HGNC Previous Symbol

NKX6A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006168.3
p.L230L
c.690G>A
Surrounding Variants
1 paper
NM_006168.3
p.R240*
c.718A>T
1 paper
NM_006168.3
p.G245R
c.733G>C
1 paper
NM_006168.3
p.G245R
c.733G>A
1 paper
NM_006168.3
p.F255F
c.765C>T
2 papers
NM_006168.3
p.E265K
c.793G>A
1 paper
NM_006168.3
p.R266M
c.797G>T
1 paper
NM_006168.3
p.Q279P
c.836A>C
1 paper
NM_006168.3
p.W214insFs
c.640_641insT
1 paper
NM_006168.3
p.P213T
c.637C>A
2 papers
NM_006168.3
p.R200Q
c.599G>A
1 paper
NM_006168.3
p.E196K
c.586G>A
1 paper
NM_006168.3
p.P193L
c.578C>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."