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.F16L

c.46T>C

Surrounding Variants

1 paper

NM_002838.5

p.F16I

c.46T>A

1 paper

NM_002838.5

p.F16_V21delFs

c.47_63del17

1 paper

NM_002838.5

p.L17fs

c.49_50fs

1 paper

NM_002838.5

p.L17_D18insFs

c.51_52insG

1 paper

NM_002838.5

p.F14fs

c.40_41fs

3 papers

NM_002838.5

p.G13D

c.38G>A

1 paper

NM_002838.5

p.T19I

c.56C>T

1 paper

NM_002838.5

p.E20Q

c.58G>C

1 paper

NM_002838.5

p.F12I

c.34T>A

1 paper

NM_002838.5

p.F12fs

c.34_35fs

1 paper

NM_002838.5

p.A11V

c.32C>T

1 paper

NM_002838.5

p.A11T

c.31G>A