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.I96M

c.288T>G

Surrounding Variants

4 papers

NM_002834.5

p.I96I

c.288T>A

1 paper

NM_002834.5

p.I96I

c.288T>C

2 papers

NM_002834.5

p.E97K

c.289G>A

3 papers

NM_002834.5

p.E97Q

c.289G>C

1 paper

NM_002834.5

p.E97A

c.290A>C

4 papers

NM_002834.5

p.I96V

c.286A>G

2 papers

NM_002834.5

p.E97V

c.290A>T

1 paper

NM_002834.5

p.L98V

c.292C>G

3 papers

NM_002834.5

p.L98F

c.292C>T

2 papers

NM_002834.5

p.V95D

c.284T>A

2 papers

NM_002834.5

p.V95A

c.284T>C

2 papers

NM_002834.5

p.V95I

c.283G>A