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.D489A

c.1466A>C

Surrounding Variants

6 papers

NM_002834.5

p.V490I

c.1468G>A

2 papers

NM_002834.5

p.I488M

c.1464T>G

2 papers

NM_002834.5

p.V490A

c.1469T>C

1 paper

NM_002834.5

p.V490G

c.1469T>G

1 paper

NM_002834.5

p.I488L

c.1462A>C

1 paper

NM_002834.5

p.I488F

c.1462A>T

1 paper

NM_002834.5

p.V490V

c.1470T>C

13 papers

NM_002834.5

p.P491T

c.1471C>A

12 papers

NM_002834.5

p.P491A

c.1471C>G

66 papers

NM_002834.5

p.P491S

c.1471C>T

NM_001330437.2

p.P495S

c.1483C>T

2 papers

NM_002834.5

p.P491delins

c.1471_1472delinsTT

4 papers

NM_002834.5

p.D487G

c.1460A>G