Varaico: Literature-Extracted Genetic Variants

PTPRQ

173 papers

RefSeq Summary

This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays...

Pfam Domains

fn3aa 57–149UCSCFibronectin type III domain

fn3aa 307–392UCSCFibronectin type III domain

fn3aa 569–656UCSCFibronectin type III domain

fn3aa 667–753UCSCFibronectin type III domain

fn3aa 761–847UCSCFibronectin type III domain

fn3aa 856–942UCSCFibronectin type III domain

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type Q

HGNC Previous Symbol

DFNB84

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001145026.2

p.Y279*

c.837T>A

Surrounding Variants

4 papers

NM_001145026.2

p.Y279*

c.837T>G

1 paper

NM_001145026.2

p.Y279C

c.836A>G

1 paper

NM_001145026.2

p.T277T

c.831A>G

1 paper

NM_001145026.2

p.A286D

c.857C>A

3 papers

NM_001145026.2

p.A286V

c.857C>T

1 paper

NM_001145026.2

p.T271A

c.811A>G

1 paper

NM_001145026.2

p.V269_F281del13

c.805_842del39

1 paper

NM_001145026.2

p.S267delFs

c.800delG

1 paper

NM_001145026.2

p.I266delFs

c.797delT

1 paper

NM_001145026.2

p.I266fs

c.796_797fs

1 paper

NM_001145026.2

p.R299_T300del2

c.895_899del6

7 papers

NM_001145026.2

p.R239G

c.715A>G