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.D96D

c.288T>C

Surrounding Variants

1 paper

NM_133178.4

p.R84Q

c.251G>A

1 paper

NM_133178.4

p.R84*

c.250C>T

1 paper

NM_133178.4

p.P81fs

c.241_242fs

1 paper

NM_133178.4

p.P81delFs

c.241_242delCC

1 paper

NM_133178.4

p.P127H

c.380C>A

1 paper

NM_133178.4

p.G137E

c.410G>A

1 paper

NM_133178.4

p.S138C

c.413C>G

1 paper

NM_133178.4

p.G140S

c.418G>A

1 paper

NM_133178.4

p.S167C

c.500C>G

1 paper

NM_133178.4

p.R194insFs

c.580dupC

1 paper

NM_133178.4

p.Q204*

c.610C>T

1 paper

NM_133178.4

p.N205S

c.614A>G