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

4 papers

NM_002834.5

p.C104S

c.311G>C

Surrounding Variants

1 paper

NM_002834.5

p.C104_A105insFs

c.312_313insT

4 papers

NM_002834.5

p.C104S

c.310T>A

1 paper

NM_002834.5

p.C104R

c.310T>C

1 paper

NM_002834.5

p.N103K

c.309C>A

1 paper

NM_002834.5

p.N103K

c.309C>G

1 paper

NM_002834.5

p.A105G

c.314C>G

3 papers

NM_002834.5

p.A105V

c.314C>T

1 paper

NM_002834.5

p.D106N

c.316G>A

2 papers

NM_002834.5

p.D106H

c.316G>C

4 papers

NM_002834.5

p.D106Y

c.316G>T

68 papers

NM_002834.5

p.D106A

c.317A>C

8 papers

NM_002834.5

p.D106G

c.317A>G