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.N18T

c.53A>C

Surrounding Variants

3 papers

NM_002834.5

p.N18S

c.53A>G

2 papers

NM_002834.5

p.N18I

c.53A>T

2 papers

NM_002834.5

p.N18H

c.52A>C

1 paper

NM_002834.5

p.N18D

c.52A>G

1 paper

NM_002834.5

p.N18Y

c.52A>T

4 papers

NM_002834.5

p.N18K

c.54C>A

2 papers

NM_002834.5

p.N18K

c.54C>G

1 paper

NM_002834.5

p.E17D

c.51A>C

1 paper

NM_002834.5

p.E17D

c.51A>T

1 paper

NM_002834.5

p.E17_L21delins

c.51_63delinsA

2 papers

NM_002834.5

p.L19I

c.55C>A

1 paper

NM_002834.5

p.L19V

c.55C>G