Varaico: Literature-Extracted Genetic Variants

PTPN22

621 papers

RefSeq Summary

This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with ...

Pfam Domains

Y_phosphataseaa 54–141UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 54–288UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 22

HGNC Previous Symbol

PTPN8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_015967.8

p.D195A

c.584A>C

Surrounding Variants

1 paper

NM_015967.8

p.D195H

c.583G>C

1 paper

NM_015967.8

p.D197V

c.590A>T

1 paper

NM_015967.8

p.D197A

c.590A>C

1 paper

NM_015967.8

p.P199S

c.595C>T

2 papers

NM_015967.8

p.S201F

c.602C>T

2 papers

NM_015967.8

p.H189L

c.566A>T

1 paper

NM_015967.8

p.F188Y

c.563T>A

1 paper

NM_015967.8

p.D203insFs

c.607dupG

1 paper

NM_015967.8

p.Y186*

c.558C>G

1 paper

NM_015967.8

p.Y186*

c.558C>A

1 paper

NM_015967.8

p.L206R

c.617T>G

2 papers

NM_015967.8

p.R183*

c.547C>T