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.R29S

c.85C>A

Surrounding Variants

1 paper

NM_002847.5

p.R29H

c.86G>A

1 paper

NM_002847.5

p.P34S

c.100C>T

1 paper

NM_002847.5

p.G38Splc

c.112+2T>G

1 paper

NM_002847.5

p.L15_P16del2

c.43_47del6

1 paper

NM_002847.5

p.P17S

c.49C>T

1 paper

NM_002847.5

p.P16L

c.47C>T

1 paper

NM_002847.5

p.L15_P16del1

c.44_46delGCA

1 paper

NM_002847.5

p.L5_P6delFs

c.15_16delGG

1 paper

NM_002847.5

p.M1V

c.1A>G