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

1 paper

NM_002834.5

p.E299*

c.895G>T

Surrounding Variants

2 papers

NM_002834.5

p.E299K

c.895G>A

4 papers

NM_002834.5

p.N298S

c.893A>G

1 paper

NM_002834.5

p.P300insFs

c.899dupC

2 papers

NM_002834.5

p.P300T

c.898C>A

1 paper

NM_002834.5

p.P297P

c.891C>T

1 paper

NM_002834.5

p.P297L

c.890C>T

2 papers

NM_002834.5

p.P297A

c.889C>G

2 papers

NM_002834.5

p.V301A

c.902T>C

1 paper

NM_002834.5

p.V301ins1

c.902_903insCCC

1 paper

NM_002834.5

p.V301_S302insFs

c.903_904insG

1 paper

NM_002834.5

p.D296N

c.886G>A

1 paper

NM_002834.5

p.S302insFs

c.905_906ins4