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

4 papers

NM_002834.5

p.T59S

c.176C>G

Surrounding Variants

3 papers

NM_002834.5

p.G60del1

c.178_179delGGT

15 papers

NM_002834.5

p.T59A

c.175A>G

2 papers

NM_002834.5

p.T59S

c.175A>T

1 paper

NM_002834.5

p.T59fs

c.175_176fs

1 paper

NM_002834.5

p.T59T

c.177T>C

55 papers

NM_002834.5

p.N58K

c.174C>A

1 paper

NM_002834.5

p.T59insFs

c.175dupA

56 papers

NM_002834.5

p.N58K

c.174C>G

12 papers

NM_002834.5

p.G60S

c.178G>A

60 papers

NM_002834.5

p.G60R

c.178G>C

12 papers

NM_002834.5

p.G60C

c.178G>T

1 paper

NM_002834.5

p.N58T

c.173A>C