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.S810L

c.2429C>T

Surrounding Variants

2 papers

NM_030667.3

p.V809I

c.2425G>A

1 paper

NM_030667.3

p.Y789F

c.2366A>T

1 paper

NM_030667.3

p.A788A

c.2364C>T

2 papers

NM_030667.3

p.A786S

c.2356G>T

1 paper

NM_030667.3

p.I780F

c.2338A>T

1 paper

NM_030667.3

p.H776Fs

c.2327delinsATFs

1 paper

NM_030667.3

p.V813Splc

c.2438-3T>C

1 paper

NM_030667.3

p.V825M

c.2473G>A

1 paper

NM_030667.3

p.S830C

c.2488A>T

1 paper

NM_030667.3

p.T840fs

c.2518_2519fs

1 paper

NM_030667.3

p.E745K

c.2233G>A

1 paper

NM_030667.3

p.L729fs

c.2185_2186fs