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.K274Q

c.820A>C

Surrounding Variants

2 papers

NM_002834.5

p.K274E

c.820A>G

1 paper

NM_002834.5

p.K274T

c.821A>C

1 paper

NM_002834.5

p.K274R

c.821A>G

1 paper

NM_002834.5

p.K274I

c.821A>T

3 papers

NM_002834.5

p.N273K

c.819C>A

3 papers

NM_002834.5

p.N273K

c.819C>G

1 paper

NM_002834.5

p.N273T

c.818A>C

1 paper

NM_002834.5

p.K274N

c.822A>C

3 papers

NM_002834.5

p.N273S

c.818A>G

1 paper

NM_002834.5

p.N273I

c.818A>T

1 paper

NM_002834.5

p.K274N

c.822A>T

1 paper

NM_002834.5

p.N275fs

c.823_824fs