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

2 papers

NM_002834.5

p.E523D

c.1569A>C

Surrounding Variants

2 papers

NM_002834.5

p.E523D

c.1569A>T

1 paper

NM_002834.5

p.E523A

c.1568A>C

1 paper

NM_002834.5

p.E523K

c.1567G>A

2 papers

NM_002834.5

p.I522M

c.1566T>G

4 papers

NM_002834.5

p.I522T

c.1565T>C

1 paper

NM_002834.5

p.I522delFs

c.1566delT

3 papers

NM_002834.5

p.L525P

c.1574T>C

1 paper

NM_002834.5

p.L525R

c.1574T>G

5 papers

NM_002834.5

p.Y521F

c.1562A>T

1 paper

NM_002834.5

p.Q526K

c.1576C>A

1 paper

NM_002834.5

p.Q526*

c.1576C>T

2 papers

NM_002834.5

p.Q526H

c.1578G>C