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

2 papers

NM_002834.5

p.K260Q

c.778A>C

Surrounding Variants

2 papers

NM_002834.5

p.K260E

c.778A>G

1 paper

NM_002834.5

p.K260T

c.779A>C

3 papers

NM_002834.5

p.K260R

c.779A>G

1 paper

NM_002834.5

p.K260I

c.779A>T

1 paper

NM_002834.5

p.K260insFs

c.779dupA

1 paper

NM_002834.5

p.C259W

c.777C>G

1 paper

NM_002834.5

p.K260N

c.780A>C

1 paper

NM_002834.5

p.K260N

c.780A>T

1 paper

NM_002834.5

p.C259Y

c.776G>A

1 paper

NM_002834.5

p.C259S

c.776G>C

1 paper

NM_002834.5

p.C259F

c.776G>T

1 paper

NM_002834.5

p.L261I

c.781C>A