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.R152G

c.454C>G

Surrounding Variants

3 papers

NM_002834.5

p.R152C

c.454C>T

13 papers

NM_002834.5

p.R152H

c.455G>A

2 papers

NM_002834.5

p.V151A

c.452T>C

1 paper

NM_002834.5

p.V151ins3

c.452_453ins9

1 paper

NM_002834.5

p.T153fs

c.457_458fs

1 paper

NM_002834.5

p.T153S

c.457A>T

1 paper

NM_002834.5

p.V151M

c.451G>A

1 paper

NM_002834.5

p.T153S

c.458C>G

2 papers

NM_002834.5

p.S150Y

c.449C>A

3 papers

NM_002834.5

p.S150F

c.449C>T

4 papers

NM_002834.5

p.G154S

c.460G>A

1 paper

NM_002834.5

p.G154R

c.460G>C