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.F285L

c.855T>A

Surrounding Variants

8 papers

NM_002834.5

p.F285L

c.855T>G

1 paper

NM_002834.5

p.D286delFs

c.856delG

2 papers

NM_002834.5

p.D286N

c.856G>A

1 paper

NM_002834.5

p.D286H

c.856G>C

1 paper

NM_002834.5

p.D286Y

c.856G>T

1 paper

NM_002834.5

p.F285Y

c.854T>A

70 papers

NM_002834.5

p.F285S

c.854T>C

6 papers

NM_002834.5

p.F285C

c.854T>G

1 paper

NM_002834.5

p.D286A

c.857A>C

1 paper

NM_002834.5

p.D286G

c.857A>G

3 papers

NM_002834.5

p.D286V

c.857A>T

2 papers

NM_002834.5

p.D286E

c.858T>A