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.Y304F

c.911A>T

Surrounding Variants

2 papers

NM_002834.5

p.I305V

c.913A>G

1 paper

NM_002834.5

p.D303N

c.907G>A

4 papers

NM_002834.5

p.N306S

c.917A>G

1 paper

NM_002834.5

p.S302insFs

c.905_906ins4

2 papers

NM_002834.5

p.S302L

c.905C>T

1 paper

NM_002834.5

p.V301_S302insFs

c.903_904insG

2 papers

NM_002834.5

p.A307E

c.920C>A

2 papers

NM_002834.5

p.V301A

c.902T>C

1 paper

NM_002834.5

p.V301ins1

c.902_903insCCC

361 papers

NM_002834.5

p.N308D

c.922A>G

29 papers

NM_002834.5

p.N308T

c.923A>C

147 papers

NM_002834.5

p.N308S

c.923A>G