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.E214K

c.640G>A

Surrounding Variants

2 papers

NM_002847.5

p.R213H

c.638G>A

1 paper

NM_002847.5

p.P218L

c.653C>T

2 papers

NM_002847.5

p.R209Q

c.626G>A

1 paper

NM_002847.5

p.R209W

c.625C>T

1 paper

NM_002847.5

p.S208F

c.623C>T

1 paper

NM_002847.5

p.S208P

c.622T>C

1 paper

NM_002847.5

p.A201V

c.602C>T

1 paper

NM_002847.5

p.E190K

c.568G>A

1 paper

NM_002847.5

p.A244S

c.730G>T

1 paper

NM_002847.5

p.S247G

c.739A>G

1 paper

NM_002847.5

p.A251P

c.751G>C

1 paper

NM_002847.5

p.P257S

c.769C>T