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.E440D

c.1320G>T

Surrounding Variants

2 papers

NM_002834.5

p.E440D

c.1320G>C

4 papers

NM_002834.5

p.E441K

c.1321G>A

1 paper

NM_002834.5

p.E440insFs

c.1319dupA

1 paper

NM_002834.5

p.F438L

c.1314C>A

3 papers

NM_002834.5

p.H443Y

c.1327C>T

3 papers

NM_002834.5

p.H443R

c.1328A>G

3 papers

NM_002834.5

p.F438V

c.1312T>G

1 paper

NM_002834.5

p.D437D

c.1311C>T

2 papers

NM_002834.5

p.H444N

c.1330C>A

4 papers

NM_002834.5

p.H444Y

c.1330C>T

3 papers

NM_002834.5

p.D437N

c.1309G>A

2 papers

NM_002834.5

p.D437Y

c.1309G>T