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

1–12 of 204 variants

6 papers

NM_030667.3

p.N370K

c.1110C>A

6 papers

NM_030667.3

p.N370K

c.1110C>G

3 papers

NM_030667.3

p.H362R

c.1085A>G

3 papers

NM_030667.3

p.W876Splc

c.2627+1G>T

2 papers

NM_030667.3

p.T6A

c.16A>G

2 papers

NM_030667.3

p.A11S

c.31G>T

2 papers

NM_030667.3

p.K173K

c.519G>A

2 papers

NM_030667.3

p.I228V

c.682A>G

2 papers

NM_030667.3

p.R231C

c.691C>T

2 papers

NM_030667.3

p.N238Y

c.712A>T

2 papers

NM_030667.3

p.R367*

c.1099C>T

2 papers

NM_030667.3

p.E482K

c.1444G>A