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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPRCAP

Variant:p.S24G

PTPRCAP

20 papers

RefSeq Summary

The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The i...

Pfam Domains

PTPRCAPaa 58–206UCSCProtein tyrosine phosphatase receptor type C-associated

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type C associated protein

HGNC Alias Symbols

LPAP; CD45-AP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:67436284 T>C

NM_005608.3

p.S24G

c.70A>G

Exome: 0.2% (AC=3405, hom=10)Genome: 0.2% (AC=248, hom=0)34 overlapping SVs

Surrounding Variants

1 paper

chr11:67436291 C>T

NM_005608.3

p.S21S

c.63G>A

Exome: 0.1% (AC=912, hom=2)Genome: 0.1% (AC=91, hom=0)34 overlapping SVs

1 paper

chr11:67436326 C>A

NM_005608.3

p.G10W

c.28G>T

Exome: 0.0% (AC=207, hom=0)Genome: 0.0% (AC=9, hom=0)34 overlapping SVs

1 paper

chr11:67436339 G>A

NM_005608.3

p.C5C

c.15C>T

Exome: 0.3% (AC=3961, hom=7)Genome: 0.2% (AC=315, hom=0)34 overlapping SVs

1 paper

chr11:67436178 C>T

NM_005608.3

p.R59H

c.176G>A

PTPRCAP

Exome: 0.0% (AC=135, hom=0)Genome: 0.0% (AC=13, hom=0)34 overlapping SVs

1 paper

chr11:67436129 C>A

NM_005608.3

p.W75C

c.225G>T

PTPRCAP

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr11:67436129 C>G

NM_005608.3

p.W75C

c.225G>C

PTPRCAP

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:67436118 C>T

NM_005608.3

p.R79Q

c.236G>A

PTPRCAP

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=5, hom=0)34 overlapping SVs

1 paper

chr11:67436115 C>T

NM_005608.3

p.R80H

c.239G>A

PTPRCAP

Exome: 0.0% (AC=11, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:67436097 G>C

NM_005608.3

p.P86R

c.257C>G

PTPRCAP

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:67436095 TGG>N

NM_005608.3

p.P87fs

c.259_260fs

PTPRCAP

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:67436081 C>T

NM_005608.3

p.L91L

c.273G>A

PTPRCAP

Exome: 0.0% (AC=70, hom=0)Genome: 0.0% (AC=7, hom=0)34 overlapping SVs

1 paper

chr11:67436073 C>T

NM_005608.3

p.R94Q

c.281G>A

PTPRCAP

Exome: 0.0% (AC=262, hom=0)Genome: 0.0% (AC=9, hom=0)34 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."