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.R32W

c.94A>T

Surrounding Variants

1 paper

NM_002834.5

p.R32G

c.94A>G

8 papers

NM_002834.5

p.R32K

c.95G>A

1 paper

NM_002834.5

p.R32T

c.95G>C

3 papers

NM_002834.5

p.R32M

c.95G>T

1 paper

NM_002834.5

p.A31E

c.92C>A

4 papers

NM_002834.5

p.A31G

c.92C>G

2 papers

NM_002834.5

p.A31V

c.92C>T

1 paper

NM_002834.5

p.R32S

c.96G>C

1 paper

NM_002834.5

p.R32S

c.96G>T

1 paper

NM_002834.5

p.P33T

c.97C>A

1 paper

NM_002834.5

p.P33A

c.97C>G

2 papers

NM_002834.5

p.P33S

c.97C>T