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

270 papers

NM_002834.5

p.Y279C

c.836A>G

Surrounding Variants

34 papers

NM_002834.5

p.Y279S

c.836A>C

4 papers

NM_002834.5

p.Y279F

c.836A>T

2 papers

NM_002834.5

p.Y279N

c.835T>A

2 papers

NM_002834.5

p.Y279H

c.835T>C

1 paper

NM_002834.5

p.Y279D

c.835T>G

1 paper

NM_002834.5

p.R278S

c.834A>C

1 paper

NM_002834.5

p.K280Q

c.838A>C

4 papers

NM_002834.5

p.K280E

c.838A>G

1 paper

NM_002834.5

p.R278S

c.834A>T

1 paper

NM_002834.5

p.K280T

c.839A>C

1 paper

NM_002834.5

p.K280R

c.839A>G

1 paper

NM_002834.5

p.K280I

c.839A>T