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

1 paper

NM_002834.5

p.G295D

c.884G>A

Surrounding Variants

1 paper

NM_002834.5

p.D296N

c.886G>A

1 paper

NM_002834.5

p.D294G

c.881A>G

2 papers

NM_002834.5

p.D294N

c.880G>A

3 papers

NM_002834.5

p.H293Q

c.879C>A

3 papers

NM_002834.5

p.H293Q

c.879C>G

2 papers

NM_002834.5

p.P297A

c.889C>G

1 paper

NM_002834.5

p.H293H

c.879C>T

1 paper

NM_002834.5

p.P297L

c.890C>T

2 papers

NM_002834.5

p.H293Y

c.877C>T

1 paper

NM_002834.5

p.P297P

c.891C>T

4 papers

NM_002834.5

p.N298S

c.893A>G

2 papers

NM_002834.5

p.E299K

c.895G>A