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.K135I

c.404A>T

Surrounding Variants

1 paper

NM_002838.5

p.A134delFs

c.401delC

1 paper

NM_002838.5

p.A134fs

c.400_401fs

1 paper

NM_002838.5

p.A134_L136delFs

c.401_407del7

1 paper

NM_002838.5

p.N137_P138insFs

c.411_412insC

1 paper

NM_002838.5

p.P138T

c.412C>A

1 paper

NM_002838.5

p.P140S

c.418C>T

1 paper

NM_002838.5

p.G141S

c.421G>A

1 paper

NM_002838.5

p.G141R

c.421G>C

1 paper

NM_002838.5

p.G141G

c.423C>A

1 paper

NM_002838.5

p.S142N

c.425G>A

1 paper

NM_002838.5

p.S128G

c.382A>G

1 paper

NM_002838.5

p.A144_I145del0

c.430_435del6