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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NANOGP8

NANOGP8

11 papers

RefSeq Summary

This gene represents a transcribed retrogene of the Nanog homeobox gene. The putative encoded protein may participate in reprogramming of cancer cells. In vitro studies using a recombinant protein hav...

Pfam Domains

Homeodomainaa 96–152UCSCHomeodomain

Gene Aliases

HGNC Name

Nanog homeobox retrogene P8

HGNC Previous Name

Nanog homeobox pseudogene 8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

4 papers

chr15:35084921 C>A

NM_001355281.2

p.D64Y

c.190G>T

Exome: 17.2% (AC=250175, hom=17878)Genome: 15.8% (AC=24073, hom=2006)6 overlapping SVs

3 papers

chr15:35085064 T>G

NM_001355281.2

p.E16A

c.47A>C

Exome: 75.3% (AC=1043920, hom=396082)Genome: 74.9% (AC=113366, hom=42550)6 overlapping SVs

1 paper

chr15:35085098 G>A

NM_001355281.2

p.P5S

c.13C>T

Exome: 0.0% (AC=62, hom=1)Genome: 0.0% (AC=3, hom=0)6 overlapping SVs

1 paper

chr15:35085021 C>A

NM_001355281.2

p.G30G

c.90G>T

exact variant not in gnomAD6 overlapping SVs

1 paper

chr15:35084908 G>T

NM_001355281.2

p.S68Y

c.203C>A

Exome: 4.7% (AC=68742, hom=1123)Genome: 3.8% (AC=5851, hom=167)6 overlapping SVs

1 paper

chr15:35084835 C>T

NM_001355281.2

p.P92P

c.276G>A

Exome: 14.8% (AC=154016, hom=0)Genome: 0.2% (AC=353, hom=0)6 overlapping SVs

1 paper

chr15:35084635 G>A

NM_001355281.2

p.P159L

c.476C>T

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr15:35084580 G>A

NM_001355281.2

p.L177L

c.531C>T

Exome: 0.0% (AC=4, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr15:35084257 C>T

NM_001355281.2

p.S285N

c.854G>A

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=0, hom=0)6 overlapping SVs

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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."