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.A251P

c.751G>C

Surrounding Variants

1 paper

NM_002847.5

p.S247G

c.739A>G

1 paper

NM_002847.5

p.P257S

c.769C>T

1 paper

NM_002847.5

p.P257H

c.770C>A

1 paper

NM_002847.5

p.A244S

c.730G>T

1 paper

NM_002847.5

p.G259V

c.776G>T

1 paper

NM_002847.5

p.E260*

c.778G>T

1 paper

NM_002847.5

p.G261C

c.781G>T

1 paper

NM_002847.5

p.P265Q

c.794C>A

1 paper

NM_002847.5

p.R274T

c.821G>C

1 paper

NM_002847.5

p.M275V

c.823A>G

1 paper

NM_002847.5

p.P218L

c.653C>T

1 paper

NM_002847.5

p.A284V

c.851C>T