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.E996G

c.2987A>G

Surrounding Variants

1 paper

NM_002847.5

p.A998T

c.2992G>A

1 paper

NM_002847.5

p.Q990*

c.2968C>T

1 paper

NM_002847.5

p.E979A

c.2936A>C

3 papers

NM_002847.5

p.A976V

c.2927C>T