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.A122V

c.365C>T

Surrounding Variants

1 paper

NM_002834.5

p.A122G

c.365C>G

3 papers

NM_002834.5

p.A122T

c.364G>A

1 paper

NM_002834.5

p.E121D

c.363A>C

1 paper

NM_002834.5

p.E121D

c.363A>T

3 papers

NM_002834.5

p.E123Q

c.367G>C

4 papers

NM_002834.5

p.E121A

c.362A>C

1 paper

NM_002834.5

p.E123A

c.368A>C

3 papers

NM_002834.5

p.E121K

c.361G>A

8 papers

NM_002834.5

p.E123D

c.369G>C

6 papers

NM_002834.5

p.E123D

c.369G>T

1 paper

NM_002834.5

p.K124E

c.370A>G

1 paper

NM_002834.5

p.K124R

c.371A>G