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

15 papers

NM_002834.5

p.T52S

c.155C>G

Surrounding Variants

2 papers

NM_002834.5

p.T52N

c.155C>A

19 papers

NM_002834.5

p.T52I

c.155C>T

3 papers

NM_002834.5

p.T52A

c.154A>G

15 papers

NM_002834.5

p.T52S

c.154A>T

2 papers

NM_002834.5

p.V51A

c.152T>C

1 paper

NM_002834.5

p.V51G

c.152T>G

2 papers

NM_002834.5

p.H53Q

c.159C>A

2 papers

NM_002834.5

p.H53Q

c.159C>G

2 papers

NM_002834.5

p.V51I

c.151G>A

1 paper

NM_002834.5

p.I54V

c.160A>G

1 paper

NM_002834.5

p.A50A

c.150T>C

1 paper

NM_002834.5

p.A50G

c.149C>G