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

3 papers

NM_002834.5

p.F147Y

c.440T>A

Surrounding Variants

3 papers

NM_002834.5

p.F147C

c.440T>G

1 paper

NM_002834.5

p.V148fs

c.442_443fs

1 paper

NM_002834.5

p.D146A

c.437A>C

3 papers

NM_002834.5

p.V148A

c.443T>C

1 paper

NM_002834.5

p.D146N

c.436G>A

5 papers

NM_002834.5

p.D146Y

c.436G>T

1 paper

NM_002834.5

p.L149I

c.445C>A

3 papers

NM_002834.5

p.L149F

c.445C>T

1 paper

NM_002834.5

p.L149L

c.447T>C

1 paper

NM_002834.5

p.P144P

c.432T>G

2 papers

NM_002834.5

p.P144H

c.431C>A

2 papers

NM_002834.5

p.S150Y

c.449C>A