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

3 papers

NM_002834.5

p.S264N

c.791G>A

Surrounding Variants

1 paper

NM_002834.5

p.S264T

c.791G>C

1 paper

NM_002834.5

p.S264I

c.791G>T

1 paper

NM_002834.5

p.S264R

c.790A>C

1 paper

NM_002834.5

p.S264G

c.790A>G

1 paper

NM_002834.5

p.S264C

c.790A>T

1 paper

NM_002834.5

p.S264R

c.792C>A

1 paper

NM_002834.5

p.S264R

c.792C>G

3 papers

NM_002834.5

p.R265G

c.793C>G

1 paper

NM_002834.5

p.Y263S

c.788A>C

2 papers

NM_002834.5

p.Y263C

c.788A>G

1 paper

NM_002834.5

p.Y263F

c.788A>T

61 papers

NM_002834.5

p.R265Q

c.794G>A