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.V853I

c.2557G>A

Surrounding Variants

2 papers

NM_002847.5

p.R854Q

c.2561G>A

1 paper

NM_002847.5

p.Y871C

c.2612A>G

1 paper

NM_002847.5

p.E878D

c.2634G>T

1 paper

NM_002847.5

p.E878D

c.2634G>C

1 paper

NM_002847.5

p.E883K

c.2647G>A

1 paper

NM_002847.5

p.N931S

c.2792A>G

1 paper

NM_002847.5

p.A949S

c.2845G>T

1 paper

NM_002847.5

p.R951R

c.2853G>C

1 paper

NM_002847.5

p.K967T

c.2900A>C