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

1–12 of 169 variants

6 papers

NM_133178.4

p.N930S

c.2789A>G

4 papers

NM_133178.4

p.R633Q

c.1898G>A

3 papers

NM_133178.4

p.P372T

c.1114C>A

3 papers

NM_133178.4

p.V610M

c.1828G>A

3 papers

NM_133178.4

p.D940G

c.2819A>G

2 papers

NM_133178.4

p.T60N

c.179C>A

2 papers

NM_133178.4

p.G69Splc

c.205+1G>C

2 papers

NM_133178.4

p.L347L

c.1041C>G

2 papers

NM_133178.4

p.R398H

c.1193G>A

2 papers

NM_133178.4

p.R471L

c.1412G>T

2 papers

NM_133178.4

p.P590_F592delFs

c.1768_1774del7

2 papers

NM_133178.4

p.R771H

c.2312G>A