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.L125V

c.373T>G

Surrounding Variants

1 paper

NM_002834.5

p.K124K

c.372A>G

1 paper

NM_002834.5

p.K124N

c.372A>T

1 paper

NM_002834.5

p.K124R

c.371A>G

1 paper

NM_002834.5

p.K124E

c.370A>G

8 papers

NM_002834.5

p.E123D

c.369G>C

6 papers

NM_002834.5

p.E123D

c.369G>T

1 paper

NM_002834.5

p.L126S

c.377T>C

2 papers

NM_002834.5

p.L126F

c.378A>C

1 paper

NM_002834.5

p.E123A

c.368A>C

2 papers

NM_002834.5

p.L126F

c.378A>T

2 papers

NM_002834.5

p.T127S

c.379A>T

3 papers

NM_002834.5

p.E123Q

c.367G>C