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

2 papers

NM_002834.5

p.D64N

c.190G>A

Surrounding Variants

3 papers

NM_002834.5

p.D64G

c.191A>G

2 papers

NM_002834.5

p.Y63S

c.188A>C

200 papers

NM_002834.5

p.Y63C

c.188A>G

2 papers

NM_002834.5

p.Y63F

c.188A>T

1 paper

NM_002834.5

p.Y63D

c.187T>G

1 paper

NM_002834.5

p.Y62*

c.186C>A

1 paper

NM_002834.5

p.Y62*

c.186C>G

3 papers

NM_002834.5

p.Y63del1

c.187_188delTAT

1 paper

NM_002834.5

p.L65Q

c.194T>A

4 papers

NM_002834.5

p.L65P

c.194T>C

1 paper

NM_002834.5

p.L65R

c.194T>G

1 paper

NM_002834.5

p.Y62insFs

c.185_186insG