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.S44Y

c.131C>A

Surrounding Variants

1 paper

NM_002834.5

p.S44C

c.131C>G

4 papers

NM_002834.5

p.S44F

c.131C>T

2 papers

NM_002834.5

p.S44T

c.130T>A

2 papers

NM_002834.5

p.S44P

c.130T>C

1 paper

NM_002834.5

p.S44A

c.130T>G

4 papers

NM_002834.5

p.V45I

c.133G>A

10 papers

NM_002834.5

p.V45L

c.133G>C

1 paper

NM_002834.5

p.V45F

c.133G>T

1 paper

NM_002834.5

p.L43L

c.129T>C

1 paper

NM_002834.5

p.L43H

c.128T>A

1 paper

NM_002834.5

p.V45D

c.134T>A

4 papers

NM_002834.5

p.L43P

c.128T>C