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.P101H

c.302C>A

Surrounding Variants

4 papers

NM_002834.5

p.P101L

c.302C>T

4 papers

NM_002834.5

p.P101S

c.301C>T

1 paper

NM_002834.5

p.Y100*

c.300T>A

1 paper

NM_002834.5

p.Y100*

c.300T>G

2 papers

NM_002834.5

p.K99E

c.295A>G

4 papers

NM_002834.5

p.K99*

c.295A>T

1 paper

NM_002834.5

p.N103K

c.309C>A

1 paper

NM_002834.5

p.N103K

c.309C>G

4 papers

NM_002834.5

p.C104S

c.310T>A

1 paper

NM_002834.5

p.C104R

c.310T>C

4 papers

NM_002834.5

p.C104S

c.311G>C

1 paper

NM_002834.5

p.C104_A105insFs

c.312_313insT