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.H287_T288insFs

c.860_863dup4

Surrounding Variants

2 papers

NM_002834.5

p.D286E

c.858T>A

2 papers

NM_002834.5

p.D286E

c.858T>G

1 paper

NM_002834.5

p.H287_H293insFs

c.859_877dup19

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

1 paper

NM_002834.5

p.H287N

c.859C>A

1 paper

NM_002834.5

p.H287D

c.859C>G

5 papers

NM_002834.5

p.H287Y

c.859C>T

3 papers

NM_002834.5

p.H287P

c.860A>C

1 paper

NM_002834.5

p.H287R

c.860A>G

1 paper

NM_002834.5

p.H287L

c.860A>T