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

172 papers

NM_002834.5

p.A72V

c.215C>T

Surrounding Variants

57 papers

NM_002834.5

p.A72D

c.215C>A

73 papers

NM_002834.5

p.A72G

c.215C>G

2 papers

NM_002834.5

p.A72A

c.216C>T

151 papers

NM_002834.5

p.A72T

c.214G>A

19 papers

NM_002834.5

p.A72P

c.214G>C

84 papers

NM_002834.5

p.A72S

c.214G>T

3 papers

NM_002834.5

p.A72delins

c.214_215delinsTT

4 papers

NM_002834.5

p.T73P

c.217A>C

5 papers

NM_002834.5

p.T73A

c.217A>G

5 papers

NM_002834.5

p.T73S

c.217A>T

2 papers

NM_002834.5

p.T73delins

c.217_218delinsCT

100 papers

NM_002834.5

p.F71L

c.213T>A