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.Q268R

c.803A>G

Surrounding Variants

1 paper

NM_015967.8

p.R269M

c.806G>T

3 papers

NM_015967.8

p.R266W

c.796C>T

1 paper

NM_015967.8

p.R266R

c.796C>A

1 paper

NM_015967.8

p.S271A

c.811T>G

1 paper

NM_015967.8

p.S271L

c.812C>T

1 paper

NM_015967.8

p.R263P

c.788G>C

82 papers

NM_015967.8

p.R263Q

c.788G>A

1 paper

NM_015967.8

p.V273V

c.819T>C

3 papers

NM_015967.8

p.I262I

c.786C>T

1 paper

NM_015967.8

p.L261F

c.783G>T

1 paper

NM_015967.8

p.L261F

c.783G>C

1 paper

NM_015967.8

p.Q276P

c.827A>C