Varaico: Literature-Extracted Genetic Variants

PTPRC

1,024 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

PTP_Naa 7–32UCSCProtein tyrosine phosphatase N terminal

CD45aa 237–295UCSCLeukocyte receptor CD45

fn3aa 483–568UCSCFibronectin type III domain

Y_phosphataseaa 677–911UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 968–1227UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type C

HGNC Previous Symbol

CD45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002838.5

p.T188delFs

c.562delA

Surrounding Variants

1 paper

NM_002838.5

p.T187N

c.560C>A

3 papers

NM_002838.5

p.I189N

c.566T>A

1 paper

NM_002838.5

p.T190A

c.568A>G

1 paper

NM_002838.5

p.A191delFs

c.572_573delCG

1 paper

NM_002838.5

p.T184S

c.550A>T

1 paper

NM_002838.5

p.R183H

c.548G>A

1 paper

NM_002838.5

p.R183fs

c.547_548fs

1 paper

NM_002838.5

p.R183C

c.547C>T

7 papers

NM_002838.5

p.T193A

c.577A>G

1 paper

NM_002838.5

p.S194insFs

c.580_581insT

1 paper

NM_002838.5

p.D195Splc

c.583+5G>A

1 paper

NM_002838.5

p.S176delFs

c.528delC