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.Q256_Q257ins0

c.768_770dupACA

Surrounding Variants

1 paper

NM_002834.5

p.L254Q

c.761T>A

1 paper

NM_002834.5

p.L254P

c.761T>C

1 paper

NM_002834.5

p.L254R

c.761T>G

1 paper

NM_002834.5

p.Q256_Q257del1

c.768_770delACA

1 paper

NM_002834.5

p.L254I

c.760C>A

2 papers

NM_002834.5

p.L254V

c.760C>G

1 paper

NM_002834.5

p.Q255K

c.763C>A

1 paper

NM_002834.5

p.Q255E

c.763C>G

2 papers

NM_002834.5

p.Q255*

c.763C>T

1 paper

NM_002834.5

p.Q255P

c.764A>C

1 paper

NM_002834.5

p.Q255R

c.764A>G

1 paper

NM_002834.5

p.Q255L

c.764A>T