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

29 papers

NM_002834.5

p.N308T

c.923A>C

Surrounding Variants

147 papers

NM_002834.5

p.N308S

c.923A>G

361 papers

NM_002834.5

p.N308D

c.922A>G

29 papers

NM_002834.5

p.I309V

c.925A>G

2 papers

NM_002834.5

p.A307E

c.920C>A

2 papers

NM_002834.5

p.I309M

c.927C>G

4 papers

NM_002834.5

p.N306S

c.917A>G

5 papers

NM_002834.5

p.M311V

c.931A>G

2 papers

NM_002834.5

p.M311T

c.932T>C

2 papers

NM_002834.5

p.I305V

c.913A>G

2 papers

NM_002834.5

p.M311_P312Splc

c.933+1G>A

1 paper

NM_002834.5

p.Y304F

c.911A>T

1 paper

NM_002834.5

p.D303N

c.907G>A