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

1–12 of 136 variants

4 papers

NM_002847.5

p.S140T

c.419G>C

3 papers

NM_002847.5

p.S325N

c.974G>A

3 papers

NM_002847.5

p.I806V

c.2416A>G

3 papers

NM_002847.5

p.A976V

c.2927C>T

2 papers

NM_002847.5

p.R119H

c.356G>A

2 papers

NM_002847.5

p.R209Q

c.626G>A

2 papers

NM_002847.5

p.R213H

c.638G>A

2 papers

NM_002847.5

p.R372H

c.1115G>A

2 papers

NM_002847.5

p.E716K

c.2146G>A

2 papers

NM_002847.5

p.Y782fs

c.2344_2345fs

2 papers

NM_002847.5

p.R854Q

c.2561G>A

1 paper

NM_002847.5

p.M1V

c.1A>G