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.G323R

c.967G>C

Surrounding Variants

1 paper

NM_002847.5

p.S325T

c.974G>C

3 papers

NM_002847.5

p.S325N

c.974G>A

1 paper

NM_002847.5

p.Q317*

c.949C>T

1 paper

NM_002847.5

p.A337V

c.1010C>T

1 paper

NM_002847.5

p.V343L

c.1027G>T

1 paper

NM_002847.5

p.V343L

c.1027G>C

1 paper

NM_002847.5

p.V343M

c.1027G>A

1 paper

NM_002847.5

p.G346A

c.1037G>C

1 paper

NM_002847.5

p.G366S

c.1096G>A

1 paper

NM_002847.5

p.R372C

c.1114C>T

2 papers

NM_002847.5

p.R372H

c.1115G>A

1 paper

NM_002847.5

p.D384N

c.1150G>A