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.Q3*

c.7C>T

Surrounding Variants

1 paper

NM_015967.8

p.Q3E

c.7C>G

1 paper

NM_015967.8

p.D2V

c.5A>T

1 paper

NM_015967.8

p.D2delins

c.4delinsT

1 paper

NM_015967.8

p.R4R

c.10A>C

2 papers

NM_015967.8

p.M1I

c.3G>C

1 paper

NM_015967.8

p.M1ins2

c.1_2ins6

1 paper

NM_015967.8

p.R4S

c.12A>T

1 paper

NM_015967.8

p.R4R

c.12A>G

1 paper

NM_015967.8

p.R4S

c.12A>C

1 paper

NM_015967.8

p.E5Q

c.13G>C

1 paper

NM_015967.8

p.E5V

c.14A>T

1 paper

NM_015967.8

p.E5D

c.15A>T