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.E482K

c.1444G>A

Surrounding Variants

1 paper

NM_030667.3

p.Q484R

c.1451A>G

1 paper

NM_030667.3

p.T487I

c.1460C>T

1 paper

NM_030667.3

p.C472S

c.1415G>C

1 paper

NM_030667.3

p.C472S

c.1414T>A

1 paper

NM_030667.3

p.V467L

c.1399G>C

1 paper

NM_030667.3

p.V467_V468insT

c.1399_1403ins3

1 paper

NM_030667.3

p.V467L

c.1399G>T

1 paper

NM_030667.3

p.T463I

c.1388C>T

1 paper

NM_030667.3

p.Q457fs

c.1369_1370fs

1 paper

NM_030667.3

p.S456_Q457insFs

c.1368_1369ins4

1 paper

NM_030667.3

p.V443I

c.1327G>A

1 paper

NM_030667.3

p.H442Q

c.1326C>A