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.H557D

c.1669C>G

Surrounding Variants

2 papers

NM_002838.5

p.P562L

c.1685C>T

4 papers

NM_002838.5

p.H570Q

c.1710T>A

4 papers

NM_002838.5

p.H570Q

c.1710T>G

1 paper

NM_002838.5

p.T572_S573del2

c.1714_1718del6

1 paper

NM_002838.5

p.T572_S573del1

c.1716_1718delATC

4 papers

NM_002838.5

p.S573A

c.1717T>G

1 paper

NM_002838.5

p.Y574delFs

c.1720delT

2 papers

NM_002838.5

p.Q545*

c.1633C>T

1 paper

NM_002838.5

p.L544V

c.1630C>G

2 papers

NM_002838.5

p.D538G

c.1613A>G

1 paper

NM_002838.5

p.N531N

c.1593T>C

1 paper

NM_002838.5

p.V529insFs

c.1585_1586insC