Varaico: Literature-Extracted Genetic Variants

PTPRU

131 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

MAMaa 27–187UCSCMAM domain, meprin/A5/mu

fn3aa 486–585UCSCFibronectin type III domain

Fn3_PTPRUaa 586–730UCSCReceptor-type tyrosine-protein phosphatase U Fn3 domain

Y_phosphataseaa 913–1143UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 1203–1438UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type U

HGNC Alias Symbols

hPTP-J; PCP-2; FMI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133178.4

p.V485Splc

c.1454-2A>G

Surrounding Variants

1 paper

NM_133178.4

p.A491A

c.1473C>G

1 paper

NM_133178.4

p.T495N

c.1484C>A

1 paper

NM_133178.4

p.P498A

c.1492C>G

1 paper

NM_133178.4

p.K506N

c.1518G>C

1 paper

NM_133178.4

p.K506N

c.1518G>T

1 paper

NM_133178.4

p.N514N

c.1542T>C

1 paper

NM_133178.4

p.I517L

c.1549A>C

1 paper

NM_133178.4

p.T518I

c.1553C>T

1 paper

NM_133178.4

p.S529*

c.1586C>A

1 paper

NM_133178.4

p.S529*

c.1586C>G

1 paper

NM_133178.4

p.R541C

c.1621C>T

1 paper

NM_133178.4

p.S544C

c.1631C>G