Varaico: Literature-Extracted Genetic Variants

PTPRZ1

181 papers

RefSeq Summary

This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of s...

Pfam Domains

Carb_anhydraseaa 44–300UCSCEukaryotic-type carbonic anhydrase

fn3aa 313–407UCSCFibronectin type III domain

Y_phosphataseaa 1750–1991UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 2048–2281UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type Z1

HGNC Previous Symbol

PTPZ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002851.3

p.G1415D

c.4244G>A

Surrounding Variants

1 paper

NM_002851.3

p.G1411S

c.4231G>A

1 paper

NM_002851.3

p.A1410A

c.4230C>T

1 paper

NM_002851.3

p.G1425_D1427del3

c.4273_4280del9

3 papers

NM_002851.3

p.G1425_D1426del2

c.4273_4277del6

1 paper

NM_002851.3

p.G1425D

c.4274G>A

9 papers

NM_002851.3

p.D1430_D1431del1

c.4290_4292delTGA

1 paper

NM_002851.3

p.G1425_D1427del0

c.4275_4280del6

7 papers

NM_002851.3

p.D1431del1

c.4291_4292delGAC

1 paper

NM_002851.3

p.G1433S

c.4297G>A

6 papers

NM_002851.3

p.G1433D

c.4298G>A

1 paper

NM_002851.3

p.G1433V

c.4298G>T

1 paper

NM_002851.3

p.L1393P

c.4178T>C