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.Q257H

c.771G>T

Surrounding Variants

1 paper

NM_002834.5

p.Q257H

c.771G>C

1 paper

NM_002834.5

p.Q257P

c.770A>C

8 papers

NM_002834.5

p.Q257R

c.770A>G

10 papers

NM_002834.5

p.Q257L

c.770A>T

4 papers

NM_002834.5

p.E258K

c.772G>A

1 paper

NM_002834.5

p.E258Q

c.772G>C

2 papers

NM_002834.5

p.E258A

c.773A>C

1 paper

NM_002834.5

p.E258G

c.773A>G

1 paper

NM_002834.5

p.E258V

c.773A>T

1 paper

NM_002834.5

p.Q257K

c.769C>A

1 paper

NM_002834.5

p.Q257E

c.769C>G

1 paper

NM_002834.5

p.Q257*

c.769C>T