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.T399I

c.1196C>T

Surrounding Variants

3 papers

NM_015967.8

p.K396N

c.1188A>C

1 paper

NM_015967.8

p.T393fs

c.1177_1178fs

1 paper

NM_015967.8

p.G406_E407insFs

c.1218_1219insA

1 paper

NM_015967.8

p.P408T

c.1222C>A

3 papers

NM_015967.8

p.K389T

c.1166A>C

1 paper

NM_015967.8

p.Q410K

c.1228C>A

1 paper

NM_015967.8

p.K411R

c.1232A>G

1 paper

NM_015967.8

p.Q413*

c.1237C>T

1 paper

NM_015967.8

p.N384T

c.1151A>C

1 paper

NM_015967.8

p.S414R

c.1242T>A

1 paper

NM_015967.8

p.L383L

c.1147C>T

1 paper

NM_015967.8

p.L381P

c.1142T>C