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.L205V

c.613C>G

Surrounding Variants

1 paper

NM_030667.3

p.T204N

c.611C>A

1 paper

NM_030667.3

p.S196P

c.586T>C

1 paper

NM_030667.3

p.Q193*

c.577C>T

1 paper

NM_030667.3

p.M185L

c.553A>C

1 paper

NM_030667.3

p.M185L

c.553A>T

1 paper

NM_030667.3

p.G174delFs

c.522delA

1 paper

NM_030667.3

p.G174fs

c.520_521fs

2 papers

NM_030667.3

p.K173K

c.519G>A

1 paper

NM_030667.3

p.P222delFs

c.665_666delCT

2 papers

NM_030667.3

p.I228V

c.682A>G

1 paper

NM_030667.3

p.S229C

c.686C>G

1 paper

NM_030667.3

p.S229F

c.686C>T