Varaico: Literature-Extracted Genetic Variants

Gene:NKX6-1
Variant:p.S52F

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.S52F
c.155C>T
Surrounding Variants
1 paper
NM_006168.3
p.S49P
c.145T>C
1 paper
NM_006168.3
p.G46A
c.137G>C
1 paper
NM_006168.3
p.P37insFs
c.109_110insG
2 papers
NM_006168.3
p.L35P
c.104T>C
1 paper
NM_006168.3
p.M28I
c.84G>T
1 paper
NM_006168.3
p.M28I
c.84G>C
1 paper
NM_006168.3
p.M28I
c.84G>A
1 paper
NM_006168.3
p.G79fs
c.235_236fs
1 paper
NM_006168.3
p.A24D
c.71C>A
1 paper
NM_006168.3
p.L16M
c.46C>A
1 paper
NM_006168.3
p.A14_F15insFs
c.42_43insG
1 paper
NM_006168.3
p.Q12H
c.36G>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."