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.A25D

c.74C>A

Surrounding Variants

1 paper

NM_015967.8

p.N26Y

c.76A>T

3 papers

NM_015967.8

p.N26S

c.77A>G

2 papers

NM_015967.8

p.E23K

c.67G>A

1 paper

NM_015967.8

p.E22V

c.65A>T

1 paper

NM_015967.8

p.F28L

c.84T>A

1 paper

NM_015967.8

p.I19T

c.56T>C

1 paper

NM_015967.8

p.K18E

c.52A>G

1 paper

NM_015967.8

p.K18Q

c.52A>C

1 paper

NM_015967.8

p.K17*

c.49A>T

22 papers

NM_015967.8

p.K17E

c.49A>G

1 paper

NM_015967.8

p.S16R

c.46A>C

1 paper

NM_015967.8

p.Q15H

c.45A>T