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.D991H

c.2971G>C

Surrounding Variants

1 paper

NM_030667.3

p.F976_S977insA

c.2926_2930ins3

1 paper

NM_030667.3

p.D975H

c.2923G>C

1 paper

NM_030667.3

p.N1002S

c.3005A>G

1 paper

NM_030667.3

p.E1016K

c.3046G>A

1 paper

NM_030667.3

p.M1035K

c.3104T>A

1 paper

NM_030667.3

p.R1044_V1045Splc

c.3132+1G>A

1 paper

NM_030667.3

p.L959R

c.2876T>G

1 paper

NM_030667.3

p.W1051*

c.3152G>A

1 paper

NM_030667.3

p.W1051*

c.3153G>A

1 paper

NM_030667.3

p.D1075N

c.3223G>A

1 paper

NM_030667.3

p.H1080Y

c.3238C>T

1 paper

NM_030667.3

p.R1082W

c.3244C>T