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.I54V

c.160A>G

Surrounding Variants

2 papers

NM_002834.5

p.H53Q

c.159C>A

2 papers

NM_002834.5

p.H53Q

c.159C>G

3 papers

NM_002834.5

p.I54T

c.161T>C

2 papers

NM_002834.5

p.I54M

c.162C>G

1 paper

NM_002834.5

p.K55E

c.163A>G

6 papers

NM_002834.5

p.K55R

c.164A>G

2 papers

NM_002834.5

p.T52N

c.155C>A

15 papers

NM_002834.5

p.T52S

c.155C>G

19 papers

NM_002834.5

p.T52I

c.155C>T

1 paper

NM_002834.5

p.K55K

c.165G>A

4 papers

NM_002834.5

p.K55N

c.165G>C

4 papers

NM_002834.5

p.K55N

c.165G>T