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.L283R

c.848T>G

Surrounding Variants

1 paper

NM_002834.5

p.L283Q

c.848T>A

2 papers

NM_002834.5

p.L283P

c.848T>C

3 papers

NM_002834.5

p.L283M

c.847C>A

1 paper

NM_002834.5

p.L283fs

c.847_848fs

1 paper

NM_002834.5

p.L283V

c.847C>G

1 paper

NM_002834.5

p.P284T

c.850C>A

14 papers

NM_002834.5

p.I282M

c.846C>G

1 paper

NM_002834.5

p.P284A

c.850C>G

2 papers

NM_002834.5

p.P284S

c.850C>T

1 paper

NM_002834.5

p.P284H

c.851C>A

1 paper

NM_002834.5

p.P284R

c.851C>G

2 papers

NM_002834.5

p.P284L

c.851C>T