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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN20

PTPN20

7 papers

RefSeq Summary

The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular process...

Pfam Domains

Y_phosphataseaa 183–411UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 20

HGNC Previous Symbols

PTPN20A; PTPN20B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr10:46932520 T>A

NM_001042357.5

p.F7L

c.21T>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)27 overlapping SVs

1 paper

chr10:46946676 A>G

NM_001042357.5

p.D114G

c.341A>G

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:46964986 A>G

NM_001042357.5

p.D114G

c.341A>G

Exome: 1.0% (AC=635, hom=2)Genome: 0.5% (AC=9, hom=0)29 overlapping SVs

1 paper

chr10:46965117 G>C

NM_001042357.5

p.D158H

c.472G>C

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:46999952 G>A

NM_001042357.5

p.R392H

c.1175G>A

Y_phosphatase

Exome: 0.0% (AC=143, hom=0)Genome: 0.0% (AC=25, hom=0)29 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."