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.V14insFs

c.42dupG

Surrounding Variants

2 papers

NM_002834.5

p.V14E

c.41T>A

3 papers

NM_002834.5

p.V14A

c.41T>C

1 paper

NM_002834.5

p.V14G

c.41T>G

5 papers

NM_002834.5

p.V14M

c.40G>A

3 papers

NM_002834.5

p.V14L

c.40G>C

2 papers

NM_002834.5

p.V14L

c.40G>T

1 paper

NM_002834.5

p.E15K

c.43G>A

1 paper

NM_002834.5

p.E15Q

c.43G>C

1 paper

NM_002834.5

p.E15delFs

c.44delA

1 paper

NM_002834.5

p.E15A

c.44A>C

1 paper

NM_002834.5

p.E15G

c.44A>G

2 papers

NM_002834.5

p.E15V

c.44A>T