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.E256del1

c.766_767delGAG

Surrounding Variants

1 paper

NM_002838.5

p.E259Q

c.775G>C

1 paper

NM_002838.5

p.C260S

c.778T>A

1 paper

NM_002838.5

p.G261E

c.782G>A

1 paper

NM_002838.5

p.N263Y

c.787A>T

1 paper

NM_002838.5

p.N267_S280delFs

c.799_838del40

1 paper

NM_002838.5

p.K243M

c.728A>T

1 paper

NM_002838.5

p.K243_V258delFs

c.729_772del44

1 paper

NM_002838.5

p.V270V

c.810G>A

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.N278delFs

c.833delA

1 paper

NM_002838.5

p.N278fs

c.832_833fs