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

62 papers

NM_002834.5

p.L20L

c.60G>A

Surrounding Variants

5 papers

NM_002834.5

p.L20L

c.60G>C

10 papers

NM_002834.5

p.L20Q

c.59T>A

1 paper

NM_002834.5

p.L21M

c.61T>A

2 papers

NM_002834.5

p.L20P

c.59T>C

1 paper

NM_002834.5

p.L20R

c.59T>G

1 paper

NM_002834.5

p.L21V

c.61T>G

1 paper

NM_002834.5

p.L20M

c.58C>A

1 paper

NM_002834.5

p.L20V

c.58C>G

1 paper

NM_002834.5

p.L21*

c.62T>A

1 paper

NM_002834.5

p.L21S

c.62T>C

1 paper

NM_002834.5

p.L21W

c.62T>G

4 papers

NM_002834.5

p.L19L

c.57A>G