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.S460R

c.1380T>G

Surrounding Variants

1 paper

NM_002834.5

p.S460S

c.1380T>C

88 papers

NM_002834.5

p.A461T

c.1381G>A

1 paper

NM_002834.5

p.S460Splc

c.1380-1G>A

1 paper

NM_002834.5

p.S460Splc

c.1380-1G>C

8 papers

NM_002834.5

p.A461S

c.1381G>T

1 paper

NM_002834.5

p.A461D

c.1382C>A

19 papers

NM_002834.5

p.A461G

c.1382C>G

2 papers

NM_002834.5

p.A461V

c.1382C>T

1 paper

NM_002834.5

p.G462R

c.1384G>A

1 paper

NM_002834.5

p.S460Splc

c.1380-4G>T

1 paper

NM_002834.5

p.S460Splc

c.1380-5C>A

3 papers

NM_002834.5

p.G462E

c.1385G>A