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

2 papers

NM_002834.5

p.K276E

c.826A>G

Surrounding Variants

1 paper

NM_002834.5

p.K276Q

c.826A>C

1 paper

NM_002834.5

p.K276T

c.827A>C

3 papers

NM_002834.5

p.K276R

c.827A>G

1 paper

NM_002834.5

p.K276I

c.827A>T

2 papers

NM_002834.5

p.N275K

c.825C>A

2 papers

NM_002834.5

p.N275K

c.825C>G

2 papers

NM_002834.5

p.N275T

c.824A>C

2 papers

NM_002834.5

p.K276N

c.828A>C

1 paper

NM_002834.5

p.N275S

c.824A>G

2 papers

NM_002834.5

p.K276N

c.828A>T

1 paper

NM_002834.5

p.N275I

c.824A>T

1 paper

NM_002834.5

p.N275fs

c.823_824fs