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.Q832L

c.2495A>T

Surrounding Variants

1 paper

NM_002847.5

p.D808N

c.2422G>A

1 paper

NM_002847.5

p.I806_M807Splc

c.2418+1G>A

3 papers

NM_002847.5

p.I806V

c.2416A>G

1 paper

NM_002847.5

p.P805P

c.2415C>T

1 paper

NM_002847.5

p.Y800Y

c.2400C>T

1 paper

NM_002847.5

p.H784R

c.2351A>G

2 papers

NM_002847.5

p.Y782fs

c.2344_2345fs