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.L30fs

c.88_89fs

Surrounding Variants

2 papers

NM_002834.5

p.L30M

c.88T>A

1 paper

NM_002834.5

p.L30V

c.88T>G

1 paper

NM_002834.5

p.F29L

c.87T>A

1 paper

NM_002834.5

p.L30*

c.89T>A

1 paper

NM_002834.5

p.L30S

c.89T>C

1 paper

NM_002834.5

p.F29L

c.87T>G

1 paper

NM_002834.5

p.L30W

c.89T>G

2 papers

NM_002834.5

p.L30F

c.90G>C

2 papers

NM_002834.5

p.L30F

c.90G>T

1 paper

NM_002834.5

p.F29Y

c.86T>A

1 paper

NM_002834.5

p.F29S

c.86T>C

1 paper

NM_002834.5

p.F29C

c.86T>G