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.F452S

c.1355T>C

Surrounding Variants

1 paper

NM_015967.8

p.F452fs

c.1354_1355fs

1 paper

NM_015967.8

p.F452delFs

c.1356delA

2 papers

NM_015967.8

p.Q456E

c.1366C>G

1 paper

NM_015967.8

p.Q457fs

c.1369_1370fs

1 paper

NM_015967.8

p.K461E

c.1381A>G

1 paper

NM_015967.8

p.E467G

c.1400A>G

1 paper

NM_015967.8

p.S479A

c.1435T>G

1 paper

NM_015967.8

p.G424A

c.1271G>C

1 paper

NM_015967.8

p.C480C

c.1440T>C

1 paper

NM_015967.8

p.L421S

c.1262T>C

1 paper

NM_015967.8

p.L420F

c.1258C>T

1 paper

NM_015967.8

p.Q485R

c.1454A>G