Varaico: Literature-Extracted Genetic Variants

PTPRJ

210 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 gr...

Pfam Domains

fn3aa 120–202UCSCFibronectin type III domain

fn3aa 366–447UCSCFibronectin type III domain

fn3aa 541–625UCSCFibronectin type III domain

PTP_tmaa 835–965UCSCTM proximal of protein tyrosine phosphatase, receptor type J

Y_phosphataseaa 1065–1297UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type J

HGNC Alias Symbols

DEP1; HPTPeta; CD148

Papers

RefSeq ID

Protein change

DNA change

1–12 of 424 variants

39 papers

NM_002843.4

p.Q276P

c.827A>C

21 papers

NM_002843.4

p.R326Q

c.977G>A

12 papers

NM_002843.4

p.E872D

c.2616G>C

11 papers

NM_002843.4

p.E872D

c.2616G>T

8 papers

NM_002843.4

p.D1205A

c.3614A>C

8 papers

NM_002843.4

p.C1239S

c.3715T>A

8 papers

NM_002843.4

p.C1239S

c.3716G>C

4 papers

NM_002843.4

p.V372I

c.1114G>A

4 papers

NM_002843.4

p.R418H

c.1253G>A

4 papers

NM_002843.4

p.R625delFs

c.1875delG

3 papers

NM_002843.4

p.Q32_I33Splc

c.97-2A>G

3 papers

NM_002843.4

p.E442E

c.1326G>A