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

2 papers

NM_002838.5

p.A173T

c.517G>A

Surrounding Variants

1 paper

NM_002838.5

p.H175Y

c.523C>T

1 paper

NM_002838.5

p.S176delFs

c.528delC

1 paper

NM_002838.5

p.T169A

c.505A>G

1 paper

NM_002838.5

p.T168I

c.503C>T

1 paper

NM_002838.5

p.L166*

c.497T>A

1 paper

NM_002838.5

p.P165L

c.494C>T

1 paper

NM_002838.5

p.R183fs

c.547_548fs

1 paper

NM_002838.5

p.R183C

c.547C>T

1 paper

NM_002838.5

p.R183H

c.548G>A

1 paper

NM_002838.5

p.T184S

c.550A>T

1 paper

NM_002838.5

p.D161A

c.482A>C

1 paper

NM_002838.5

p.T160A

c.478A>G