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.L381P

c.1142T>C

Surrounding Variants

1 paper

NM_015967.8

p.L383L

c.1147C>T

1 paper

NM_015967.8

p.D379H

c.1135G>C

1 paper

NM_015967.8

p.N384T

c.1151A>C

1 paper

NM_015967.8

p.T376I

c.1127C>T

3 papers

NM_015967.8

p.K389T

c.1166A>C

1 paper

NM_015967.8

p.P371L

c.1112C>T

7 papers

NM_015967.8

p.H370N

c.1108C>A

1 paper

NM_015967.8

p.T393fs

c.1177_1178fs

1 paper

NM_015967.8

p.V368A

c.1103T>C

1 paper

NM_015967.8

p.E366A

c.1097A>C

3 papers

NM_015967.8

p.K396N

c.1188A>C

1 paper

NM_015967.8

p.T399I

c.1196C>T