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

6 papers

NM_002834.5

p.T2K

c.5C>A

Surrounding Variants

32 papers

NM_002834.5

p.T2I

c.5C>T

2 papers

NM_002834.5

p.S3insFs

c.7dupT

3 papers

NM_002834.5

p.T2A

c.4A>G

2 papers

NM_002834.5

p.T2S

c.4A>T

2 papers

NM_002834.5

p.M1I

c.3G>A

1 paper

NM_002834.5

p.M1I

c.3G>C

1 paper

NM_002834.5

p.M1_T2insFs

c.3_4insA

2 papers

NM_002834.5

p.M1I

c.3G>T

1 paper

NM_002834.5

p.S3insFs

c.8dupC

1 paper

NM_002834.5

p.S3W

c.8C>G

3 papers

NM_002834.5

p.M1K

c.2T>A

2 papers

NM_002834.5

p.M1T

c.2T>C