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

3 papers

NM_002834.5

p.Q87*

c.259C>T

Surrounding Variants

1 paper

NM_002834.5

p.Q87K

c.259C>A

1 paper

NM_002834.5

p.Q87E

c.259C>G

1 paper

NM_002834.5

p.G86E

c.257G>A

1 paper

NM_002834.5

p.G86R

c.256G>A

1 paper

NM_002834.5

p.G86R

c.256G>C

3 papers

NM_002834.5

p.L88I

c.262T>A

1 paper

NM_002834.5

p.L88fs

c.262_263fs

3 papers

NM_002834.5

p.H85H

c.255C>T

3 papers

NM_002834.5

p.H85Y

c.253C>T

2 papers

NM_002834.5

p.H84L

c.251A>T

1 paper

NM_002834.5

p.E90K

c.268G>A

12 papers

NM_002834.5

p.E90Q

c.268G>C