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_002848.4

p.E915_E916Splc

c.2745+1G>A

Surrounding Variants

1 paper

NM_030667.3

p.E943Q

c.2827G>C

1 paper

NM_030667.3

p.D933N

c.2797G>A

1 paper

NM_002848.4

p.N888fs

c.2662_2663fs

1 paper

NM_030667.3

p.N907fs

c.2719_2720fs

1 paper

NM_030667.3

p.P903P

c.2709T>C

1 paper

NM_030667.3

p.L896_L897insT

c.2686_2690ins3

1 paper

NM_030667.3

p.F883L

c.2649C>A

1 paper

NM_030667.3

p.F883L

c.2649C>G

1 paper

NM_030667.3

p.F883L

c.2647T>C

1 paper

NM_030667.3

p.R878S

c.2634G>C

1 paper

NM_030667.3

p.R878S

c.2634G>T

1 paper

NM_030667.3

p.L959R

c.2876T>G