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.I476T

c.1427T>C

Surrounding Variants

2 papers

NM_002834.5

p.I476V

c.1426A>G

1 paper

NM_002834.5

p.D477G

c.1430A>G

3 papers

NM_002834.5

p.L475P

c.1424T>C

2 papers

NM_002834.5

p.L475R

c.1424T>G

2 papers

NM_002834.5

p.I478V

c.1432A>G

2 papers

NM_002834.5

p.I474V

c.1420A>G

2 papers

NM_002834.5

p.I479V

c.1435A>G

1 paper

NM_002834.5

p.I479F

c.1435A>T

2 papers

NM_002834.5

p.I479T

c.1436T>C

2 papers

NM_002834.5

p.D473Y

c.1417G>T

2 papers

NM_002834.5

p.E481K

c.1441G>A

3 papers

NM_002834.5

p.K482Q

c.1444A>C