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.L553F

c.1659A>T

Surrounding Variants

3 papers

NM_015967.8

p.D558N

c.1672G>A

9 papers

NM_015967.8

p.S565P

c.1693T>C

1 paper

NM_015967.8

p.P541delFs

c.1622delG

1 paper

NM_015967.8

p.L566L

c.1696C>T

1 paper

NM_015967.8

p.P568S

c.1702C>T

1 paper

NM_015967.8

p.P568T

c.1702C>A

1 paper

NM_015967.8

p.T569P

c.1705A>C

2 papers

NM_015967.8

p.Y536F

c.1607A>T

1 paper

NM_015967.8

p.N534K

c.1602T>G

1 paper

NM_015967.8

p.N534K

c.1602T>A

1 paper

NM_015967.8

p.N534S

c.1601A>G

1 paper

NM_015967.8

p.H581R

c.1742A>G