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.A615T

c.1843G>A

Surrounding Variants

3 papers

NM_133178.4

p.V610M

c.1828G>A

1 paper

NM_133178.4

p.A620V

c.1859C>T

1 paper

NM_133178.4

p.G602G

c.1806C>T

1 paper

NM_133178.4

p.S623Splc

c.1868+22G>A

2 papers

NM_133178.4

p.P590_F592delFs

c.1768_1774del7

1 paper

NM_133178.4

p.Q577R

c.1730A>G

1 paper

NM_133178.4

p.R570H

c.1709G>A

1 paper

NM_133178.4

p.A569delFs

c.1705_1706delGC

1 paper

NM_133178.4

p.R568W

c.1702C>T

1 paper

NM_133178.4

p.V567M

c.1699G>A

1 paper

NM_133178.4

p.T562S

c.1685C>G

1 paper

NM_133178.4

p.T562S

c.1684A>T