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.T22S

c.64A>T

Surrounding Variants

1 paper

NM_002834.5

p.T22insFs

c.64_65insTG

1 paper

NM_002834.5

p.T22P

c.64A>C

7 papers

NM_002834.5

p.T22A

c.64A>G

1 paper

NM_002834.5

p.T22K

c.65C>A

1 paper

NM_002834.5

p.T22R

c.65C>G

1 paper

NM_002834.5

p.T22I

c.65C>T

1 paper

NM_002834.5

p.L21L

c.63G>A

1 paper

NM_002834.5

p.L21F

c.63G>C

1 paper

NM_002834.5

p.L21_T22insFs

c.63_64insA

1 paper

NM_002834.5

p.L21F

c.63G>T

1 paper

NM_002834.5

p.L21*

c.62T>A

1 paper

NM_002834.5

p.L21S

c.62T>C