Varaico: Literature-Extracted Genetic Variants

PTPRO

180 papers

RefSeq Summary

This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific f...

Pfam Domains

PTPRO_Naa 27–115UCSCReceptor-type tyrosine-protein phosphatase O, N-terminal domain

Fn3_R-PTP-Oaa 341–430UCSCR-PTP-O-like, fibronectin type III domain

fn3aa 434–527UCSCFibronectin type III domain

fn3aa 724–808UCSCFibronectin type III domain

Y_phosphataseaa 962–1194UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type O

HGNC Alias Symbols

PTPU2; GLEPP1; PTP-U2; PTP-oc; NPHS6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030667.3

p.S302delFs

c.905delG

Surrounding Variants

1 paper

NM_030667.3

p.D301Y

c.901G>T

1 paper

NM_030667.3

p.S304A

c.910T>G

1 paper

NM_030667.3

p.W299insFs

c.896_897insT

1 paper

NM_030667.3

p.A306S

c.916G>T

1 paper

NM_030667.3

p.P307S

c.919C>T

1 paper

NM_030667.3

p.P307L

c.920C>T

1 paper

NM_030667.3

p.Q296delFs

c.888delG

1 paper

NM_030667.3

p.E312K

c.934G>A

1 paper

NM_030667.3

p.P284S

c.850C>T

1 paper

NM_030667.3

p.T326insFs

c.976_977insA

1 paper

NM_030667.3

p.T326insFs

c.977_978insA

1 paper

NM_030667.3

p.S276L

c.827C>T