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

2 papers

NM_002847.5

p.E716K

c.2146G>A

Surrounding Variants

1 paper

NM_002847.5

p.R708C

c.2122C>T

1 paper

NM_002847.5

p.D724D

c.2172C>T

1 paper

NM_002847.5

p.T687M

c.2060C>T

1 paper

NM_002847.5

p.P679S

c.2035C>T

1 paper

NM_002847.5

p.A675V

c.2024C>T