Varaico: Literature-Extracted Genetic Variants

PTPRN2

125 papers

RefSeq Summary

This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Stud...

Pfam Domains

RESP18aa 61–139UCSCRESP18 domain

Receptor_IA-2aa 509–597UCSCProtein-tyrosine phosphatase receptor IA-2

Y_phosphataseaa 770–1004UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type N2

HGNC Alias Symbols

KIAA0387; phogrin; ICAAR; IA-2beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002847.5

p.E183delFs

c.547delC

Surrounding Variants

1 paper

NM_002847.5

p.E159E

c.477G>A

1 paper

NM_002847.5

p.A145D

c.434C>A

4 papers

NM_002847.5

p.S140T

c.419G>C