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.S34C

c.100A>T

Surrounding Variants

1 paper

NM_002834.5

p.S34R

c.100A>C

1 paper

NM_002834.5

p.S34G

c.100A>G

1 paper

NM_002834.5

p.S34N

c.101G>A

1 paper

NM_002834.5

p.S34T

c.101G>C

1 paper

NM_002834.5

p.S34I

c.101G>T

1 paper

NM_002834.5

p.P33H

c.98C>A

1 paper

NM_002834.5

p.P33R

c.98C>G

3 papers

NM_002834.5

p.P33L

c.98C>T

1 paper

NM_002834.5

p.S34R

c.102T>A

1 paper

NM_002834.5

p.S34R

c.102T>G

2 papers

NM_002834.5

p.K35Q

c.103A>C

2 papers

NM_002834.5

p.K35E

c.103A>G