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

1–12 of 350 variants

82 papers

NM_015967.8

p.R263Q

c.788G>A

40 papers

NM_015967.8

p.W620R

c.1858T>C

31 papers

NM_015967.8

p.W620R

c.1858T>A

22 papers

NM_015967.8

p.K17E

c.49A>G

18 papers

NM_015967.8

p.C227S

c.679T>A

18 papers

NM_015967.8

p.C227S

c.680G>C

11 papers

NM_015967.8

p.K750N

c.2250G>C

9 papers

NM_015967.8

p.S565P

c.1693T>C

8 papers

NM_015967.8

p.K750N

c.2250G>T

7 papers

NM_015967.8

p.D195A

c.584A>C

7 papers

NM_015967.8

p.H370N

c.1108C>A

5 papers

NM_015967.8

p.E80K

c.238G>A