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.E347delFs

c.1040delT

Surrounding Variants

2 papers

NM_015967.8

p.I348fs

c.1042_1043fs

2 papers

NM_015967.8

p.E350*

c.1048G>T

1 paper

NM_015967.8

p.S352F

c.1055C>T

1 paper

NM_015967.8

p.Q342H

c.1026A>T

1 paper

NM_015967.8

p.Q342H

c.1026A>C

1 paper

NM_015967.8

p.F356F

c.1068T>C

1 paper

NM_015967.8

p.E360G

c.1079A>G

1 paper

NM_015967.8

p.K334*

c.1000A>T

1 paper

NM_015967.8

p.T333I

c.998C>T

1 paper

NM_015967.8

p.S331T

c.992G>C

1 paper

NM_015967.8

p.S331Splc

c.993-1G>A

1 paper

NM_015967.8

p.E366A

c.1097A>C