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

2 papers

NM_002834.5

p.D473Y

c.1417G>T

Surrounding Variants

2 papers

NM_002834.5

p.I474V

c.1420A>G

3 papers

NM_002834.5

p.L475P

c.1424T>C

2 papers

NM_002834.5

p.I470I

c.1410T>C

2 papers

NM_002834.5

p.L475R

c.1424T>G

2 papers

NM_002834.5

p.I470T

c.1409T>C

2 papers

NM_002834.5

p.I470V

c.1408A>G

2 papers

NM_002834.5

p.I476V

c.1426A>G

2 papers

NM_002834.5

p.I476T

c.1427T>C

2 papers

NM_002834.5

p.F469S

c.1406T>C

1 paper

NM_002834.5

p.D477G

c.1430A>G

303 papers

NM_002834.5

p.T468M

c.1403C>T

19 papers

NM_002834.5

p.T468P

c.1402A>C