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.T733K

c.2198C>A

Surrounding Variants

1 paper

NM_015967.8

p.S732*

c.2195C>G

1 paper

NM_015967.8

p.S732*

c.2195C>A

1 paper

NM_015967.8

p.T728delFs

c.2184delG

3 papers

NM_015967.8

p.D727E

c.2181C>G

3 papers

NM_015967.8

p.D727E

c.2181C>A

1 paper

NM_015967.8

p.S724G

c.2170A>G

1 paper

NM_012411.6

p.T692R

c.2075C>G

3 papers

NM_015967.8

p.R748G

c.2242A>G

8 papers

NM_015967.8

p.K750N

c.2250G>T

11 papers

NM_015967.8

p.K750N

c.2250G>C

1 paper

NM_015967.8

p.K750_S751Splc

c.2250+10A>G

1 paper

NM_015967.8

p.C712F

c.2135G>T