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

18 papers

NM_002834.5

p.G268S

c.802G>A

Surrounding Variants

1 paper

NM_002834.5

p.G268R

c.802G>C

16 papers

NM_002834.5

p.G268C

c.802G>T

1 paper

NM_002834.5

p.G268D

c.803G>A

1 paper

NM_002834.5

p.E267D

c.801G>C

1 paper

NM_002834.5

p.G268A

c.803G>C

1 paper

NM_002834.5

p.E267D

c.801G>T

1 paper

NM_002834.5

p.G268V

c.803G>T

1 paper

NM_002834.5

p.E267A

c.800A>C

1 paper

NM_002834.5

p.E267G

c.800A>G

1 paper

NM_002834.5

p.E267V

c.800A>T

1 paper

NM_002834.5

p.Q269K

c.805C>A

2 papers

NM_002834.5

p.Q269E

c.805C>G