Varaico: Literature-Extracted Genetic Variants

Gene:PTPRJ
Variant:p.E247K

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
Selected Variant
1 paper
NM_002843.4
p.E247K
c.739G>A
Surrounding Variants
1 paper
NM_002843.4
p.S245N
c.734G>A
1 paper
NM_002843.4
p.G244E
c.731G>A
1 paper
NM_002843.4
p.E241G
c.722A>G
1 paper
NM_002843.4
p.R254I
c.761G>T
1 paper
NM_002843.4
p.Q256P
c.767A>C
1 paper
NM_002843.4
p.Q256R
c.767A>G
1 paper
NM_002843.4
p.R237W
c.709C>T
1 paper
NM_002843.4
p.N258S
c.773A>G
1 paper
NM_002843.4
p.A234T
c.700G>A
2 papers
NM_002843.4
p.T233T
c.699T>C
1 paper
NM_002843.4
p.G261D
c.782G>A
1 paper
NM_002843.4
p.N231_G232insFs
c.693_694insG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."