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

Selected Variant

4 papers

NM_002843.4

p.V372I

c.1114G>A

Surrounding Variants

1 paper

NM_002843.4

p.V372L

c.1114G>C

1 paper

NM_002843.4

p.V375fs

c.1123_1124fs

1 paper

NM_002843.4

p.N376S

c.1127A>G

1 paper

NM_002843.4

p.I377insFs

c.1129dupA

1 paper

NM_002843.4

p.L384fs

c.1150_1151fs

1 paper

NM_002843.4

p.V388F

c.1162G>T

1 paper

NM_002843.4

p.S393S

c.1179G>A

1 paper

NM_002843.4

p.S394S

c.1182A>C

1 paper

NM_002843.4

p.N396Fs

c.1186_1188delinsTFs

1 paper

NM_002843.4

p.Y397*

c.1191T>A

1 paper

NM_002843.4

p.Y397*

c.1191T>G

1 paper

NM_002843.4

p.H402Y

c.1204C>T