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

4 papers

NM_002834.5

p.I282T

c.845T>C

Surrounding Variants

1 paper

NM_002834.5

p.I282N

c.845T>A

3 papers

NM_002834.5

p.I282S

c.845T>G

1 paper

NM_002834.5

p.I282L

c.844A>C

76 papers

NM_002834.5

p.I282V

c.844A>G

1 paper

NM_002834.5

p.I282F

c.844A>T

14 papers

NM_002834.5

p.I282M

c.846C>G

3 papers

NM_002834.5

p.L283M

c.847C>A

2 papers

NM_002834.5

p.N281K

c.843C>A

1 paper

NM_002834.5

p.L283fs

c.847_848fs

2 papers

NM_002834.5

p.N281K

c.843C>G

1 paper

NM_002834.5

p.L283V

c.847C>G

1 paper

NM_002834.5

p.N281T

c.842A>C