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

160 papers

NM_002834.5

p.E139D

c.417G>T

Surrounding Variants

2 papers

NM_002834.5

p.E139E

c.417G>A

172 papers

NM_002834.5

p.E139D

c.417G>C

2 papers

NM_002834.5

p.E139A

c.416A>C

1 paper

NM_002834.5

p.S140R

c.418A>C

5 papers

NM_002834.5

p.E139G

c.416A>G

3 papers

NM_002834.5

p.S140C

c.418A>T

3 papers

NM_002834.5

p.E139K

c.415G>A

2 papers

NM_002834.5

p.S140N

c.419G>A

1 paper

NM_002834.5

p.E139Q

c.415G>C

1 paper

NM_002834.5

p.S140R

c.420C>A

1 paper

NM_002834.5

p.S140R

c.420C>G

12 papers

NM_002834.5

p.R138Q

c.413G>A