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

110 papers

NM_002834.5

p.Y62D

c.184T>G

Surrounding Variants

11 papers

NM_002834.5

p.Y62N

c.184T>A

1 paper

NM_002834.5

p.Y62H

c.184T>C

1 paper

NM_002834.5

p.Y62delins

c.184_186delinsGAG

1 paper

NM_002834.5

p.Y62insFs

c.185_186insG

2 papers

NM_002834.5

p.Y62S

c.185A>C

13 papers

NM_002834.5

p.Y62C

c.185A>G

3 papers

NM_002834.5

p.Y62F

c.185A>T

3 papers

NM_002834.5

p.D61E

c.183T>A

1 paper

NM_002834.5

p.D61D

c.183T>C

2 papers

NM_002834.5

p.D61E

c.183T>G

3 papers

NM_002834.5

p.Y62_Y63del1

c.186_188delCTA

46 papers

NM_002834.5

p.D61A

c.182A>C