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

6 papers

NM_002834.5

p.F41L

c.121T>C

Surrounding Variants

1 paper

NM_002834.5

p.F41I

c.121T>A

1 paper

NM_002834.5

p.F41V

c.121T>G

1 paper

NM_002834.5

p.D40E

c.120C>A

1 paper

NM_002834.5

p.D40E

c.120C>G

2 papers

NM_002834.5

p.F41Y

c.122T>A

1 paper

NM_002834.5

p.F41S

c.122T>C

1 paper

NM_002834.5

p.F41C

c.122T>G

2 papers

NM_002834.5

p.D40A

c.119A>C

2 papers

NM_002834.5

p.D40G

c.119A>G

1 paper

NM_002834.5

p.D40V

c.119A>T

6 papers

NM_002834.5

p.F41L

c.123C>A

6 papers

NM_002834.5

p.F41L

c.123C>G