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.P51S

c.151C>T

Surrounding Variants

1 paper

NM_002838.5

p.L50*

c.149T>A

1 paper

NM_002838.5

p.T52A

c.154A>G

1 paper

NM_002838.5

p.L50_P51insFs

c.150_151ins4

1 paper

NM_002838.5

p.P49P

c.147C>A

1 paper

NM_002838.5

p.T52I

c.155C>T

1 paper

NM_002838.5

p.P49insFs

c.146_147insA

2 papers

NM_002838.5

p.P49T

c.145C>A

1 paper

NM_002838.5

p.D48A

c.143A>C

1 paper

NM_002838.5

p.H53Q

c.159C>A

1 paper

NM_002838.5

p.H53Q

c.159C>G

1 paper

NM_002838.5

p.D48N

c.142G>A

1 paper

NM_002838.5

p.S47N

c.140G>A