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.H114Y

c.340C>T

Surrounding Variants

1 paper

NM_002834.5

p.H114R

c.341A>G

2 papers

NM_002834.5

p.G115R

c.343G>A

2 papers

NM_002834.5

p.G115R

c.343G>C

3 papers

NM_002834.5

p.G115E

c.344G>A

1 paper

NM_002834.5

p.W112L

c.335G>T

3 papers

NM_002834.5

p.H116N

c.346C>A

1 paper

NM_002834.5

p.H116Y

c.346C>T

1 paper

NM_002834.5

p.W112R

c.334T>A

1 paper

NM_002834.5

p.W112R

c.334T>C

1 paper

NM_002834.5

p.H116L

c.347A>T

2 papers

NM_002834.5

p.H116Q

c.348T>A

2 papers

NM_002834.5

p.H116Q

c.348T>G