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.N48I

c.143A>T

Surrounding Variants

1 paper

NM_002834.5

p.N48T

c.143A>C

1 paper

NM_002834.5

p.N48S

c.143A>G

1 paper

NM_002834.5

p.N48H

c.142A>C

1 paper

NM_002834.5

p.N48D

c.142A>G

2 papers

NM_002834.5

p.N48K

c.144T>A

2 papers

NM_002834.5

p.N48K

c.144T>G

1 paper

NM_002834.5

p.R47S

c.141A>C

1 paper

NM_002834.5

p.R47S

c.141A>T

3 papers

NM_002834.5

p.G49R

c.145G>A

3 papers

NM_002834.5

p.G49R

c.145G>C

2 papers

NM_002834.5

p.G49E

c.146G>A

1 paper

NM_002834.5

p.R47K

c.140G>A