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

2 papers

NM_133178.4

p.G69Splc

c.205+1G>C

Surrounding Variants

1 paper

NM_133178.4

p.P67S

c.199C>T

1 paper

NM_133178.4

p.D65Y

c.193G>T

2 papers

NM_133178.4

p.T60N

c.179C>A

1 paper

NM_133178.4

p.G59D

c.176G>A

1 paper

NM_133178.4

p.F49L

c.147C>A

1 paper

NM_133178.4

p.F49L

c.147C>G

1 paper

NM_133178.4

p.F49L

c.145T>C

1 paper

NM_133178.4

p.Q43*

c.127C>T

1 paper

NM_133178.4

p.C27G

c.79T>G

1 paper

NM_133178.4

p.A25Splc

c.74-2506G>A

1 paper

NM_133178.4

p.P81delFs

c.241_242delCC

1 paper

NM_133178.4

p.P81fs

c.241_242fs