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

19 papers

NM_002834.5

p.N58H

c.172A>C

Surrounding Variants

48 papers

NM_002834.5

p.N58D

c.172A>G

40 papers

NM_002834.5

p.N58Y

c.172A>T

1 paper

NM_002834.5

p.N58T

c.173A>C

33 papers

NM_002834.5

p.N58S

c.173A>G

1 paper

NM_002834.5

p.N58I

c.173A>T

2 papers

NM_002834.5

p.Q57Q

c.171G>A

2 papers

NM_002834.5

p.Q57H

c.171G>C

2 papers

NM_002834.5

p.Q57H

c.171G>T

1 paper

NM_002834.5

p.N58_T59del2

c.172_176del6

55 papers

NM_002834.5

p.N58K

c.174C>A

1 paper

NM_002834.5

p.T59insFs

c.175dupA

56 papers

NM_002834.5

p.N58K

c.174C>G