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

101 papers

NM_002834.5

p.C459S

c.1376G>C

Surrounding Variants

1 paper

NM_002834.5

p.C459F

c.1376G>T

101 papers

NM_002834.5

p.C459S

c.1375T>A

8 papers

NM_002834.5

p.C459G

c.1375T>G

1 paper

NM_002834.5

p.S460R

c.1378A>C

3 papers

NM_002834.5

p.H458Q

c.1374C>A

4 papers

NM_002834.5

p.H458Q

c.1374C>G

1 paper

NM_002834.5

p.H458D

c.1372C>G

1 paper

NM_002834.5

p.S460R

c.1380T>A

1 paper

NM_002834.5

p.S460R

c.1380T>G

2 papers

NM_002834.5

p.V457M

c.1369G>A

1 paper

NM_002834.5

p.V456V

c.1368G>A

3 papers

NM_002834.5

p.V456M

c.1366G>A