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.E69*

c.205G>T

Surrounding Variants

153 papers

NM_002834.5

p.E69K

c.205G>A

61 papers

NM_002834.5

p.E69Q

c.205G>C

1 paper

NM_002834.5

p.E69delins

c.205_206delinsAT

2 papers

NM_002834.5

p.E69A

c.206A>C

18 papers

NM_002834.5

p.E69G

c.206A>G

17 papers

NM_002834.5

p.E69V

c.206A>T

1 paper

NM_002834.5

p.G68G

c.204G>A

1 paper

NM_002834.5

p.G68_E69insFs

c.204_205ins7

22 papers

NM_002834.5

p.E69D

c.207G>C

22 papers

NM_002834.5

p.E69D

c.207G>T

2 papers

NM_002834.5

p.G68V

c.203G>T

1 paper

NM_002834.5

p.K70*

c.208A>T