Varaico: Literature-Extracted Genetic Variants

PTPN11

3,412 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

SH2aa 6–81UCSCSH2 domain

SH2aa 112–197UCSCSH2 domain

Y_phosphataseaa 273–520UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 11

HGNC Previous Symbol

NS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_002834.5

p.R289G

c.865A>G

Surrounding Variants

2 papers

NM_002834.5

p.R289W

c.865A>T

2 papers

NM_002834.5

p.R289delFs

c.867delG

1 paper

NM_002834.5

p.T288_R289insFs

c.864_865ins4

1 paper

NM_002834.5

p.T288_R289insFs

c.864_865ins4

2 papers

NM_002834.5

p.R289K

c.866G>A

1 paper

NM_002834.5

p.R289T

c.866G>C

1 paper

NM_002834.5

p.R289M

c.866G>T

1 paper

NM_002834.5

p.T288N

c.863C>A

1 paper

NM_002834.5

p.T288insFs

c.863_864ins4

1 paper

NM_002834.5

p.T288insFs

c.863_864ins4

1 paper

NM_002834.5

p.T288S

c.863C>G

3 papers

NM_002834.5

p.T288I

c.863C>T