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.E76delins

c.226_227delinsCT

Surrounding Variants

396 papers

NM_002834.5

p.E76K

c.226G>A

80 papers

NM_002834.5

p.E76Q

c.226G>C

1 paper

NM_002834.5

p.E76fs

c.226_227fs

124 papers

NM_002834.5

p.E76A

c.227A>C

104 papers

NM_002834.5

p.E76G

c.227A>G

73 papers

NM_002834.5

p.E76V

c.227A>T

2 papers

NM_002834.5

p.A75G

c.224C>G

2 papers

NM_002834.5

p.A75V

c.224C>T

77 papers

NM_002834.5

p.E76D

c.228G>C

75 papers

NM_002834.5

p.E76D

c.228G>T

1 paper

NM_002834.5

p.A75T

c.223G>A

3 papers

NM_002834.5

p.A75P

c.223G>C