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.S156insFs

c.467_468insT

Surrounding Variants

1 paper

NM_030667.3

p.S156_Y157insFs

c.468_469insT

1 paper

NM_030667.3

p.I155V

c.463A>G

1 paper

NM_030667.3

p.G160S

c.478G>A

1 paper

NM_030667.3

p.T151A

c.451A>G

1 paper

NM_030667.3

p.R164R

c.492G>C

1 paper

NM_030667.3

p.M166T

c.497T>C

1 paper

NM_030667.3

p.K146fs

c.436_437fs

1 paper

NM_030667.3

p.E145K

c.433G>A

1 paper

NM_030667.3

p.K146delFs

c.438delA

1 paper

NM_030667.3

p.E140K

c.418G>A

1 paper

NM_030667.3

p.V137L

c.409G>C

1 paper

NM_030667.3

p.P118L

c.353C>T