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

8 papers

NM_002838.5

p.P301S

c.901C>T

Surrounding Variants

6 papers

NM_002838.5

p.P301L

c.902C>T

2 papers

NM_002838.5

p.I296T

c.887T>C

3 papers

NM_002838.5

p.I296L

c.886A>C

3 papers

NM_002838.5

p.I296L

c.886A>T

1 paper

NM_002838.5

p.T289_A290insFs

c.867_868ins4

1 paper

NM_002838.5

p.C288insFs

c.863_864ins4

1 paper

NM_002838.5

p.A279A

c.837G>A

1 paper

NM_002838.5

p.N278fs

c.832_833fs

1 paper

NM_002838.5

p.N278delFs

c.833delA

1 paper

NM_002838.5

p.T274A

c.820A>G

1 paper

NM_002838.5

p.T274S

c.820A>T

1 paper

NM_002838.5

p.V270V

c.810G>A