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

6 papers

NM_030667.3

p.N370K

c.1110C>A

Surrounding Variants

6 papers

NM_030667.3

p.N370K

c.1110C>G

1 paper

NM_030667.3

p.F371V

c.1111T>G

1 paper

NM_030667.3

p.F384L

c.1150T>C

1 paper

NM_030667.3

p.F384L

c.1152T>A

1 paper

NM_030667.3

p.F384L

c.1152T>G

1 paper

NM_030667.3

p.L388L

c.1162C>T

1 paper

NM_030667.3

p.Y394*

c.1182T>A

1 paper

NM_030667.3

p.S402N

c.1205G>A

1 paper

NM_030667.3

p.T409I

c.1226C>T

1 paper

NM_030667.3

p.R410Q

c.1229G>A

2 papers

NM_030667.3

p.R367*

c.1099C>T

3 papers

NM_030667.3

p.H362R

c.1085A>G