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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAGE1

PAGE1

16 papers

RefSeq Summary

This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an an...

Pfam Domains

GAGEaa 1–100UCSCGAGE protein

GAGEaa 94–143UCSCGAGE protein

Gene Aliases

HGNC Name

PAGE family member 1

HGNC Previous Symbol

GAGEB1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chrX:49689423 T>C

NM_003785.4

p.E138G

c.413A>G

GAGE

Exome: 0.9% (AC=9074, hom=44)Genome: 0.7% (AC=729, hom=4)57 overlapping SVs

1 paper

chrX:49694766 C>G

NM_003785.4

p.G2A

c.5G>C

GAGE

exact variant not in gnomAD56 overlapping SVs

1 paper

chrX:49694716 A>T

NM_003785.4

p.S19T

c.55T>A

GAGE

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=7, hom=0)56 overlapping SVs

1 paper

chrX:49694116 C>T

NM_003785.4

p.G50E

c.149G>A

GAGE

exact variant not in gnomAD56 overlapping SVs

1 paper

chrX:49694104 G>A

NM_003785.4

p.A54V

c.161C>T

GAGE

exact variant not in gnomAD56 overlapping SVs

1 paper

chrX:49689539 TGGCC>T

NM_003785.4

p.G98_P99delFs

c.293_296del4

GAGE

exact variant not in gnomAD57 overlapping SVs

1 paper

chrX:49689486 C>T

NM_003785.4

p.R117H

c.350G>A

GAGE

Exome: 0.1% (AC=1270, hom=14)Genome: 0.2% (AC=149, hom=2)57 overlapping SVs

1 paper

chrX:49689484 C>G

NM_003785.4

p.G118R

c.352G>C

GAGE

exact variant not in gnomAD57 overlapping SVs

1 paper

chrX:49689484 C>T

NM_003785.4

p.G118R

c.352G>A

GAGE

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=9, hom=0)57 overlapping SVs

1 paper

chrX:49689460 A>T

NM_003785.4

p.L126M

c.376T>A

GAGE

exact variant not in gnomAD57 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."