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.Q269R

c.806A>G

Surrounding Variants

1 paper

NM_002834.5

p.Q269P

c.806A>C

1 paper

NM_002834.5

p.Q269L

c.806A>T

1 paper

NM_002834.5

p.Q269H

c.807A>C

1 paper

NM_002834.5

p.Q269H

c.807A>T

1 paper

NM_002834.5

p.R270delFs

c.808_809delAG

1 paper

NM_002834.5

p.Q269K

c.805C>A

2 papers

NM_002834.5

p.Q269E

c.805C>G

1 paper

NM_002834.5

p.R270G

c.808A>G

1 paper

NM_002834.5

p.R270W

c.808A>T

1 paper

NM_002834.5

p.G268D

c.803G>A

1 paper

NM_002834.5

p.R270K

c.809G>A

1 paper

NM_002834.5

p.G268A

c.803G>C