Varaico: Literature-Extracted Genetic Variants

Gene:NKX6-1
Variant:p.I339T

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.I339T
c.1016T>C
Surrounding Variants
1 paper
NM_006168.3
p.I339delFs
c.1015delT
1 paper
NM_006168.3
p.I339fs
c.1015_1016fs
2 papers
NM_006168.3
p.P329L
c.986C>T
1 paper
NM_006168.3
p.N327delFs
c.981delA
1 paper
NM_006168.3
p.N327fs
c.979_980fs
1 paper
NM_006168.3
p.E322K
c.964G>A
2 papers
NM_006168.3
p.S317L
c.950C>T
1 paper
NM_006168.3
p.Q279P
c.836A>C
1 paper
NM_006168.3
p.R266M
c.797G>T
2 papers
NM_006168.3
p.E265K
c.793G>A
1 paper
NM_006168.3
p.F255F
c.765C>T
1 paper
NM_006168.3
p.G245R
c.733G>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."