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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPRA

Variant:p.P109L

PTPRA

43 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

Y_phosphataseaa 265–500UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 558–790UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type A

HGNC Previous Symbol

PTPRL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

5 papers

chr20:2965113 C>T

NM_001385305.1

p.P109L

c.326C>T

Exome: 11.9% (AC=174598, hom=15076)Genome: 24.0% (AC=36553, hom=7787)13 overlapping SVs

Surrounding Variants

2 papers

chr20:2965173 C>T

NM_001385305.1

p.A129V

c.386C>T

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)13 overlapping SVs

1 paper

chr20:2964966 C>G

NM_001385305.1

p.S60C

c.179C>G

exact variant not in gnomAD13 overlapping SVs

1 paper

chr20:2964963 T>C

NM_001385305.1

p.L59P

c.176T>C

Exome: 0.0% (AC=8, hom=0)Genome: n/a13 overlapping SVs

3 papers

chr20:2964957 C>A

NM_001385305.1

p.T57N

c.170C>A

Exome: 0.0% (AC=178, hom=1)Genome: 0.0% (AC=6, hom=0)13 overlapping SVs

1 paper

chr20:2964927 C>G

NM_001385305.1

p.A47G

c.140C>G

exact variant not in gnomAD13 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."