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.E110D

c.330A>T

Surrounding Variants

2 papers

NM_002834.5

p.E110D

c.330A>C

9 papers

NM_002834.5

p.E110A

c.329A>C

4 papers

NM_002834.5

p.E110G

c.329A>G

11 papers

NM_002834.5

p.E110K

c.328G>A

1 paper

NM_002834.5

p.R111K

c.332G>A

2 papers

NM_002834.5

p.R111M

c.332G>T

1 paper

NM_002834.5

p.S109C

c.326C>G

2 papers

NM_002834.5

p.S109P

c.325T>C

1 paper

NM_002834.5

p.T108S

c.323C>G

2 papers

NM_002834.5

p.T108I

c.323C>T

1 paper

NM_002834.5

p.T108S

c.322A>T

3 papers

NM_002834.5

p.P107A

c.319C>G