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.S335*

c.1004C>A

Surrounding Variants

1 paper

NM_030667.3

p.S335*

c.1004C>G

1 paper

NM_030667.3

p.S333L

c.998C>T

1 paper

NM_030667.3

p.F340delFs

c.1018delT

1 paper

NM_030667.3

p.F340L

c.1018T>C

1 paper

NM_030667.3

p.F340fs

c.1018_1019fs

1 paper

NM_030667.3

p.F340L

c.1020T>A

1 paper

NM_030667.3

p.F340L

c.1020T>G

1 paper

NM_030667.3

p.Q344*

c.1030C>T

1 paper

NM_030667.3

p.T326insFs

c.977_978insA

1 paper

NM_030667.3

p.T326insFs

c.976_977insA

1 paper

NM_030667.3

p.E312K

c.934G>A

3 papers

NM_030667.3

p.H362R

c.1085A>G