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.G24R

c.70G>C

Surrounding Variants

3 papers

NM_002834.5

p.G24R

c.70G>A

1 paper

NM_002834.5

p.R23S

c.69A>C

1 paper

NM_002834.5

p.R23S

c.69A>T

2 papers

NM_002834.5

p.G24E

c.71G>A

1 paper

NM_002834.5

p.G24A

c.71G>C

1 paper

NM_002834.5

p.G24V

c.71G>T

37 papers

NM_002834.5

p.G24G

c.72A>G

116 papers

NM_002834.5

p.G24G

c.72A>T

3 papers

NM_002834.5

p.R23K

c.68G>A

1 paper

NM_002834.5

p.R23T

c.68G>C

1 paper

NM_002834.5

p.R23I

c.68G>T

1 paper

NM_002834.5

p.R23insFs

c.68dupG