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

1 paper

NM_015967.8

p.L11Q

c.32T>A

Surrounding Variants

1 paper

NM_015967.8

p.K9R

c.26A>G

1 paper

NM_015967.8

p.K9Q

c.25A>C

1 paper

NM_015967.8

p.A14S

c.40G>T

1 paper

NM_015967.8

p.A14P

c.40G>C

1 paper

NM_015967.8

p.A14T

c.40G>A

1 paper

NM_015967.8

p.A14V

c.41C>T

2 papers

NM_015967.8

p.Q8L

c.23A>T

1 paper

NM_015967.8

p.Q8P

c.23A>C

1 paper

NM_015967.8

p.Q8E

c.22C>G

1 paper

NM_015967.8

p.L7L

c.19C>T

1 paper

NM_015967.8

p.I6insFs

c.17dupT

1 paper

NM_015967.8

p.Q15H

c.45A>T