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

2 papers

NM_030667.3

p.R231C

c.691C>T

Surrounding Variants

1 paper

NM_030667.3

p.I232_E241delFs

c.694_722del29

1 paper

NM_030667.3

p.S229C

c.686C>G

1 paper

NM_030667.3

p.S229F

c.686C>T

1 paper

NM_030667.3

p.V233I

c.697G>A

2 papers

NM_030667.3

p.I228V

c.682A>G

2 papers

NM_030667.3

p.N238Y

c.712A>T

1 paper

NM_030667.3

p.P222delFs

c.665_666delCT

1 paper

NM_030667.3

p.E241K

c.721G>A

1 paper

NM_030667.3

p.Q243Q

c.729G>A

1 paper

NM_030667.3

p.F265fs

c.793_794fs

1 paper

NM_030667.3

p.S276L

c.827C>T

1 paper

NM_030667.3

p.P284S

c.850C>T