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.K266T

c.797A>C

Surrounding Variants

1 paper

NM_002834.5

p.K266R

c.797A>G

1 paper

NM_002834.5

p.K266I

c.797A>T

1 paper

NM_002834.5

p.K266Q

c.796A>C

1 paper

NM_002834.5

p.K266N

c.798A>C

2 papers

NM_002834.5

p.K266E

c.796A>G

1 paper

NM_002834.5

p.K266N

c.798A>T

1 paper

NM_002834.5

p.E267K

c.799G>A

1 paper

NM_002834.5

p.E267Q

c.799G>C

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

61 papers

NM_002834.5

p.R265Q

c.794G>A