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.T418A

c.1252A>G

Surrounding Variants

1 paper

NM_133178.4

p.S420L

c.1259C>T

1 paper

NM_133178.4

p.R413C

c.1237C>T

1 paper

NM_133178.4

p.Y423*

c.1269T>A

1 paper

NM_133178.4

p.Y423*

c.1269T>G

1 paper

NM_133178.4

p.Q433_T434del1

c.1298_1300delAGA

1 paper

NM_133178.4

p.R436*

c.1306C>T

2 papers

NM_133178.4

p.R398H

c.1193G>A

1 paper

NM_133178.4

p.A397V

c.1190C>T

1 paper

NM_133178.4

p.Q396Q

c.1188G>A

1 paper

NM_133178.4

p.A393D

c.1178C>A

1 paper

NM_133178.4

p.P387L

c.1160C>T

1 paper

NM_133178.4

p.A386V

c.1157C>T