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

3 papers

NM_015967.8

p.R70W

c.208C>T

Surrounding Variants

1 paper

NM_015967.8

p.R70P

c.209G>C

1 paper

NM_015967.8

p.R70Q

c.209G>A

1 paper

NM_015967.8

p.R70R

c.210G>A

1 paper

NM_015967.8

p.S69G

c.205A>G

1 paper

NM_015967.8

p.Y68H

c.202T>C

2 papers

NM_015967.8

p.E72K

c.214G>A

1 paper

NM_015967.8

p.D67N

c.199G>A

1 paper

NM_015967.8

p.Y66Splc

c.197-1G>C

1 paper

NM_015967.8

p.S74C

c.221C>G

1 paper

NM_015967.8

p.Y66Splc

c.197-4A>G

1 paper

NM_015967.8

p.I76M

c.228A>G

1 paper

NM_015967.8

p.S78F

c.233C>T